37:
155:
1968:
1998:
2008:
1169:
1988:
1978:
115:
Degeneration occurs at the cellular level and in certain subtypes results in cellular death. Cellular death or dysfunction causes a break or faulty signal in the line of communication from the central nervous system to target muscles in the body. When there is impaired communication or a lack of
116:
communication entirely, the muscles in the body do not function correctly. Muscle control complications can be observed in multiple balance, speech, and motor or movement impairment symptoms. ADCA is divided into three types and further subdivided into subtypes known as SCAs (
322:
In terms of the genetics of autosomal dominant cerebellar ataxia 11 of 18 known genes are caused by repeated expansions in corresponding proteins, sharing the same mutational mechanism. SCAs can be caused by conventional mutations or large rearrangements in genes that make
262:
as it has been noted to have postural and action tremor in addition to cerebellar ataxia. Additionally, spinocerebellar ataxia type 20 (SCA20) is organized in ADCA III that often exhibits disease-like symptoms at an earlier age, sometime starting at fourteen years old.
279:
Symptoms typically are onset in the adult years, although, childhood cases have also been observed. Common symptoms include a loss of coordination which is often seen in walking, and slurred speech. ADCA primarily affects the
185:
and has degenerative effects. Within the first subclass of Type 1 are SCA1, SCA2, SCA3, SCA17, and DRPLA. This first subclass is the most common of Type 1 ADCAs with SCA3 being the most common subtype of all of Type 1. SCA3,
410:
In terms of frequency, it is estimated at 2 per 100,000, it has identified in different regions of the world. Some clusters of certain types of autosomal dominant cerebellar ataxia reach a prevalence of 5 per 100,000.
1108:
715:
Pulst, Stefan M. (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.).
804:
Bird, Thomas D. (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.).
2967:
234:. Moving further into SCA7's pathology, a similar genetic process is described, while the function of ATXN7 (an ataxin gene) is much like a component of the SAGA complex. The SAGA complex uses two
272:
2495:
358:
In diagnosing autosomal dominant cerebellar ataxia the individuals clinical history or their past health examinations, a current physical examination to check for any physical
2881:
2876:
2893:
2871:
132:
have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/SCA16, SCA17-SCA23, SCA25, SCA27, SCA28, SCA32, SCA34-SCA37, autosomal dominant cerebellar ataxia and
2044:
362:, and a genetic screening of the patients genes and the genealogy of the family are done. The large category of cerebellar ataxia is caused by a deterioration of
398:
is one current idea put forth by
Bushart, et al. There is some evidence that for SCA1 and two other polyQ disorders that the pathology can be reversed after the
394:. Manipulating the use of protein homeostasis regulators can be therapeutic agents, or a treatment to try and correct an altered function that makes up the
151:
as well as other conditions that are dependent on the subtype. Type 1 ADCA is divided into 3 subclasses based on pathogenesis of the subtypes each contain.
638:
214:– the third subclass of Type 1 ADCA is caused by different mutations and deletions in genes. It comprises SCA13, SCA14, SCA15, SCA16, SCA27, and SCA28.
2240:
437:
548:
459:
2235:
492:
2037:
1497:
2863:
1838:
334:
The mechanism of Type I is not completely known, however, Whaley, et al. suggest the polyglutamine product is toxic to the cell at a
527:
2853:
2030:
1437:
2833:
2506:
226:
ADCA is composed of SCA7 and syndromes associated with pigmentary maculopathies. SCA7 is a disease that specifically displays
2962:
2858:
2490:
258:
pattern is similar to a mutant ATXN5-induced gain in Gcn5 HAT. Spinocerebellar ataxia type 15 has been classified as an ADCA
912:
2972:
2696:
2684:
2146:
1737:
133:
820:
731:
868:
Brusse E, Maat-Kievit JA, van
Swieten JC (2007). "Diagnosis and management of early- and late-onset cerebellar ataxia".
2915:
2848:
2403:
1873:
1215:
246:
and the Usp22 deubiquitinase. Mutant ATXN7 in HAT activity causes an increase in activity, which was reported from an
2618:
2421:
1076:
1055:
390:
In terms of a cure there is currently none available, however for the disease to manifest itself, it requires mutant
2737:
2252:
2228:
2058:
1991:
1863:
1297:
208:
is affected instead of proteins in subtype two SCAs because of this. Subtype 2 contains SCA8, SCA10, and SCA12.
2977:
2931:
2816:
2732:
2674:
2444:
2223:
2900:
2274:
1843:
1011:"Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA"
1184:
2410:
1487:
755:"Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics"
519:
2888:
2438:
2110:
1467:
1152:
581:"Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics"
429:
367:
2838:
2806:
2780:
2758:
2607:
2186:
1896:
2905:
2679:
2093:
1688:
1610:
1605:
1525:
1285:
1141:
484:
239:
630:
200:– the second subclass of Type 1 ADCA is also caused by the same nucleotide repeats but instead in
2910:
2843:
2599:
2417:
2269:
2259:
2103:
1668:
1642:
2022:
950:"Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease"
2775:
2767:
2722:
2398:
2370:
2218:
1260:
1208:
187:
117:
94:
2790:
2664:
2482:
2460:
2375:
2298:
2208:
2195:
2120:
1911:
1797:
1770:
1743:
1695:
1649:
1344:
2727:
2544:
2433:
1931:
1891:
1758:
1572:
1567:
1547:
1482:
1334:
8:
2656:
2303:
2158:
2098:
2011:
1953:
1936:
1595:
1312:
375:
1174:
965:
2826:
2811:
2799:
2549:
2500:
2337:
2200:
2088:
1901:
1858:
1848:
1637:
1590:
1557:
1552:
1302:
1280:
982:
949:
893:
781:
754:
692:
667:
607:
580:
250:
analysis in the retina. There are also studies that show a loss in activity when human
98:
49:
846:
2589:
2555:
2527:
2518:
2450:
2426:
2293:
2141:
1997:
1971:
1853:
1823:
1802:
1765:
1748:
1663:
1627:
1617:
1512:
1432:
1376:
1339:
1324:
1265:
1232:
1201:
1072:
1051:
1032:
987:
969:
885:
881:
812:
786:
723:
697:
612:
542:
453:
243:
67:
897:
841:
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Durr A.
2712:
2583:
2578:
2363:
2358:
1981:
1673:
1658:
1535:
1410:
1366:
1022:
977:
961:
877:
842:
776:
766:
687:
679:
602:
592:
105:
2634:
2325:
2001:
1946:
1807:
1792:
1775:
1715:
1710:
1654:
1632:
1329:
1275:
1255:
1066:
1045:
923:
391:
339:
205:
2691:
2640:
2468:
2177:
2054:
1833:
1787:
1600:
1530:
1349:
1027:
1010:
112:
leading to disorder and a decrease or loss of function to regions of the body.
109:
1117:
806:
717:
2956:
2717:
2669:
2539:
2308:
2264:
2115:
1916:
1705:
1700:
1562:
1502:
1405:
973:
850:
359:
328:
293:
271:
948:
Bushart, David D.; Murphy, Geoffrey G.; Shakkottai, Vikram G. (2016-01-01).
579:
Whaley, Nathaniel; Fujioka, Shinsuke; Wszolek, Zbigniew K (1 January 2011).
2213:
2083:
2066:
1921:
1906:
1732:
1457:
1307:
1292:
1238:
991:
889:
816:
790:
771:
727:
701:
616:
597:
298:
154:
1036:
683:
578:
485:"Autosomal Dominant Cerebellar Ataxia information page. Patient | Patient"
36:
2172:
2133:
2075:
1780:
1725:
1622:
1477:
1452:
1270:
285:
255:
857:(Subscription may be required or content may be available in libraries.)
753:
Fujioka, Shinsuke; Sundal, Christina; Wszolek, Zbigniew K (2013-01-18).
2283:
2153:
1868:
1753:
1720:
1492:
1442:
1427:
1422:
1415:
1400:
1390:
1136:
310:
281:
231:
194:
repeats more than 56 times while the regular length is around 13 to 31.
175:
167:
1100:
2393:
2344:
2332:
2315:
2247:
1941:
1683:
1678:
1542:
1520:
1395:
1359:
668:"The cell biology of disease: Cell biology of spinocerebellar ataxia"
395:
347:
324:
178:
44:
Autosomal dominant is the manner in which this condition is inherited
378:(CT) scans can also be used to view neuronal deterioration, but the
2868:
Spinal muscular atrophy with lower extremity predominance (SMALED)
2573:
2565:
2531:
2385:
2288:
1447:
1224:
1147:
1044:
Louis, Elan D.; Mayer, Stephan A.; Rowland, Lewis P. (2015-08-31).
191:
182:
102:
2968:
Systemic atrophies primarily affecting the central nervous system
2052:
1926:
1386:
1354:
1247:
399:
371:
363:
343:
335:
247:
235:
227:
2612:
2353:
2320:
1112:
148:
251:
867:
327:
and calcium signaling, channel function, tau regulation and
1193:
370:(MRI) is used to detect any structural abnormality such as
379:
201:
171:
230:
degeneration, along with the common degeneration of the
947:
520:"Orphanet: Autosomal dominant cerebellar ataxia type 1"
181:. This glutamine is toxic to the cell on the level of
1090:
752:
811:. Seattle (WA): University of Washington, Seattle.
722:. Seattle (WA): University of Washington, Seattle.
166:– subtypes in the first subclass are caused by CAG
1043:
204:and in a region that does not code for proteins.
2954:
430:"Orphanet: Autosomal dominant cerebellar ataxia"
382:provides a more accurate and detailed picture.
254:in yeast was used. The SCA7 autosomal-dominant
147:ADCA is characterized by different symptoms of
2038:
1209:
2757:
547:: CS1 maint: numeric names: authors list (
458:: CS1 maint: numeric names: authors list (
374:which are the primary cause of the ataxia.
2045:
2031:
1498:Reproductive endocrinology and infertility
1216:
1202:
35:
1839:Bachelor of Medicine, Bachelor of Surgery
1026:
981:
780:
770:
691:
606:
596:
30:Autosomal dominant spinocerebellar ataxia
513:
511:
509:
270:
242:. These activities are the Gcn5 histone
153:
1068:Movement Disorders: Genetics and Models
2955:
2834:Distal hereditary motor neuronopathies
2507:Template:Demyelinating diseases of CNS
1064:
913:"Autosomal Dominant Cerebellar Ataxia"
910:
661:
659:
657:
655:
574:
572:
570:
568:
566:
564:
562:
560:
558:
2026:
1197:
1050:. Lippincott Williams & Wilkins.
714:
518:RESERVED, INSERM US14 -- ALL RIGHTS.
506:
479:
477:
475:
473:
471:
469:
266:
2685:Idiopathic intracranial hypertension
2074:
1977:
1738:Physical medicine and rehabilitation
1185:Autosomal dominant cerebellar ataxia
1142:Autosomal dominant cerebellar ataxia
1008:
803:
517:
428:RESERVED, INSERM US14-- ALL RIGHTS.
427:
134:dentatorubral pallidoluysian atrophy
87:Autosomal dominant cerebellar ataxia
62:ADCS type1, ADCA type 2, ADCA type 3
22:Autosomal dominant cerebellar ataxia
1987:
966:10.3978/j.issn.2305-5839.2016.01.06
665:
652:
555:
440:from the original on 31 August 2019
13:
2916:Infantile progressive bulbar palsy
1874:Medical Scientist Training Program
1002:
466:
338:level, this effect may be done by
238:-modifying techniques to regulate
14:
2989:
2619:Template:Cerebrovascular diseases
2422:Frontotemporal lobar degeneration
1086:
759:Orphanet Journal of Rare Diseases
585:Orphanet Journal of Rare Diseases
190:, is the most common because the
108:that causes deterioration of the
2639:For more detailed coverage, see
2617:For more detailed coverage, see
2588:For more detailed coverage, see
2554:For more detailed coverage, see
2505:For more detailed coverage, see
2006:
1996:
1986:
1976:
1967:
1966:
1167:
954:Annals of Translational Medicine
882:10.1111/j.1399-0004.2006.00722.x
342:dysregulation and disruption of
2007:
941:
904:
861:
835:
823:from the original on 2021-10-17
734:from the original on 2017-01-18
641:from the original on 2021-04-17
530:from the original on 2020-11-12
495:from the original on 2021-08-13
405:
288:. Some signs and symptoms are:
1864:Doctor of Osteopathic Medicine
1298:Oral and maxillofacial surgery
1065:LeDoux, Mark S. (2005-01-25).
797:
746:
708:
623:
421:
101:manner. ADCA is a genetically
1:
2932:Amyotrophic lateral sclerosis
2817:Hereditary spastic paraplegia
2675:Normal pressure hydrocephalus
847:10.1016/S1474-4422(10)70183-6
832:Last Revision: March 3, 2016.
719:Spinocerebellar Ataxia Type 2
414:
385:
366:in the cerebellum, therefore
292:Episodes of altered level of
2963:Autosomal dominant disorders
2901:Progressive muscular atrophy
1844:Bachelor of Medical Sciences
1611:Neurosurgical anesthesiology
1223:
666:Orr, H. T. (16 April 2012).
353:
331:activity or RNA alteration.
7:
2973:Neurodegenerative disorders
2411:Primary progressive aphasia
672:The Journal of Cell Biology
317:
218:
80:Anticonvulsants may be used
10:
2994:
2733:Hashimoto's encephalopathy
2439:Posterior cortical atrophy
2260:Striatonigral degeneration
2111:Cavernous sinus thrombosis
808:Hereditary Ataxia Overview
368:magnetic resonance imaging
2839:Spinal muscular atrophies
2807:Primary lateral sclerosis
2789:
2766:
2750:
2705:
2665:Intracranial hypertension
2655:
2627:
2598:
2564:
2526:
2515:
2481:
2459:
2445:Creutzfeldt–Jakob disease
2384:
2194:
2185:
2171:
2131:
2065:
1962:
1884:
1822:
1583:
1511:
1466:
1375:
1246:
1231:
1127:
1094:
346:homeostasis which causes
139:
76:
66:
58:
48:
43:
34:
26:
21:
2906:Progressive bulbar palsy
2697:Intracranial hypotension
2680:Choroid plexus papilloma
2094:Herpesviral encephalitis
1798:Transplantation medicine
1689:Clinical neurophysiology
1606:Obstetric anesthesiology
1526:Interventional radiology
1286:Digestive system surgery
1028:10.1093/brain/119.5.1497
304:Multi-system involvement
123:
54:Multi system involvement
2418:Frontotemporal dementia
2104:Encephalitis lethargica
1669:Intensive care medicine
1643:Mass gathering medicine
1488:Maternal–fetal medicine
911:Ludger, Schols (2003).
635:Genetics Home Reference
128:Currently there are 27
118:spinocerebellar ataxias
2723:Hepatic encephalopathy
1261:Cardiothoracic surgery
772:10.1186/1750-1172-8-14
598:10.1186/1750-1172-6-33
276:
188:Machado-Joseph disease
159:
95:spinocerebellar ataxia
2781:Ataxia–telangiectasia
2738:Static encephalopathy
2461:Mitochondrial disease
2299:Spasmodic torticollis
2209:Basal ganglia disease
1912:Personalized medicine
1771:Reproductive medicine
1696:Occupational medicine
1650:Evolutionary medicine
684:10.1083/jcb.201105092
274:
174:, which code for the
157:
2978:Cytoskeletal defects
2728:Toxic encephalopathy
2434:Lewy bodies dementia
1932:Traditional medicine
1892:Alternative medicine
1759:Addiction psychiatry
1573:Transfusion medicine
1568:Medical microbiology
1483:Gynecologic oncology
1335:Reproductive surgery
2776:Friedreich's ataxia
2159:Meningoencephalitis
2099:Limbic encephalitis
1954:History of medicine
1937:Veterinary medicine
1744:Preventive medicine
1596:Adolescent medicine
1438:Infectious diseases
1047:Merritt's Neurology
376:Computed tomography
307:Movement disorders.
2812:Pseudobulbar palsy
2550:Status epilepticus
2501:Multiple sclerosis
2338:Myoclonic epilepsy
2201:movement disorders
2147:Acute disseminated
2089:Viral encephalitis
1902:Molecular oncology
1859:Doctor of Medicine
1849:Master of Medicine
1766:Radiation oncology
1638:Emergency medicine
1591:Addiction medicine
1558:Clinical chemistry
1553:Clinical pathology
1345:Transplant surgery
1303:Orthopedic surgery
1281:Colorectal surgery
1128:External resources
1071:. Academic Press.
350:to occur earlier.
284:, as well as, the
277:
267:Symptoms and signs
160:
99:autosomal dominant
2950:
2949:
2946:
2945:
2942:
2941:
2746:
2745:
2651:
2650:
2590:Template:Headache
2556:Template:Epilepsy
2477:
2476:
2451:Vascular dementia
2294:Status dystonicus
2167:
2166:
2142:Encephalomyelitis
2020:
2019:
1854:Master of Surgery
1818:
1817:
1803:Tropical medicine
1749:Prison healthcare
1664:Hospital medicine
1628:Disaster medicine
1618:Aviation medicine
1433:Hospital medicine
1340:Surgical oncology
1325:Pediatric surgery
1319:
1266:Endocrine surgery
1162:
1161:
929:on 30 August 2017
849: – via
244:acetyltransferase
84:
83:
68:Diagnostic method
16:Medical condition
2985:
2764:
2763:
2755:
2754:
2713:Brain herniation
2524:
2523:
2364:Intention tremor
2359:Essential tremor
2224:Postencephalitic
2192:
2191:
2183:
2182:
2072:
2071:
2053:Diseases of the
2047:
2040:
2033:
2024:
2023:
2010:
2009:
2000:
1990:
1989:
1980:
1979:
1970:
1969:
1674:Medical genetics
1659:General practice
1536:Nuclear medicine
1411:Gastroenterology
1367:Vascular surgery
1317:
1244:
1243:
1218:
1211:
1204:
1195:
1194:
1171:
1170:
1092:
1091:
1082:
1061:
1040:
1030:
1021:(5): 1497–1505.
1009:Burk, K (1996).
996:
995:
985:
945:
939:
938:
936:
934:
928:
922:. Archived from
917:
908:
902:
901:
865:
859:
858:
855:
839:
833:
831:
829:
828:
801:
795:
794:
784:
774:
750:
744:
742:
740:
739:
712:
706:
705:
695:
663:
650:
649:
647:
646:
627:
621:
620:
610:
600:
576:
553:
552:
546:
538:
536:
535:
515:
504:
503:
501:
500:
481:
464:
463:
457:
449:
447:
445:
425:
97:inherited in an
39:
19:
18:
2993:
2992:
2988:
2987:
2986:
2984:
2983:
2982:
2953:
2952:
2951:
2938:
2864:Congenital DSMA
2785:
2742:
2701:
2647:
2635:Sleep disorders
2623:
2600:Cerebrovascular
2594:
2560:
2517:
2511:
2473:
2455:
2380:
2326:Choreoathetosis
2199:
2176:
2163:
2127:
2061:
2051:
2021:
2016:
1958:
1947:Chief physician
1880:
1825:
1814:
1808:Travel medicine
1793:Sports medicine
1776:Sexual medicine
1716:Palliative care
1711:Pain management
1655:Family medicine
1633:Diving medicine
1579:
1507:
1469:
1462:
1378:
1371:
1330:Plastic surgery
1276:General surgery
1256:Cardiac surgery
1237:
1235:
1227:
1222:
1192:
1191:
1190:
1172:
1168:
1163:
1158:
1157:
1123:
1122:
1103:
1089:
1079:
1058:
1005:
1003:Further reading
1000:
999:
946:
942:
932:
930:
926:
915:
909:
905:
866:
862:
856:
853:
840:
836:
826:
824:
802:
798:
751:
747:
737:
735:
713:
709:
664:
653:
644:
642:
629:
628:
624:
577:
556:
540:
539:
533:
531:
516:
507:
498:
496:
483:
482:
467:
451:
450:
443:
441:
426:
422:
417:
408:
392:gene expression
388:
356:
340:transcriptional
320:
269:
221:
206:Gene expression
170:repeats in the
142:
126:
93:) is a form of
17:
12:
11:
5:
2991:
2981:
2980:
2975:
2970:
2965:
2948:
2947:
2944:
2943:
2940:
2939:
2937:
2936:
2935:
2934:
2923:
2922:
2921:
2920:
2919:
2918:
2913:
2903:
2898:
2897:
2896:
2891:
2886:
2885:
2884:
2879:
2874:
2866:
2861:
2856:
2851:
2846:
2836:
2822:
2821:
2820:
2819:
2814:
2809:
2795:
2793:
2787:
2786:
2784:
2783:
2778:
2772:
2770:
2761:
2752:
2748:
2747:
2744:
2743:
2741:
2740:
2735:
2730:
2725:
2720:
2715:
2709:
2707:
2703:
2702:
2700:
2699:
2694:
2692:Cerebral edema
2689:
2688:
2687:
2682:
2677:
2672:
2661:
2659:
2653:
2652:
2649:
2648:
2646:
2645:
2644:
2643:
2641:Template:Sleep
2631:
2629:
2625:
2624:
2622:
2621:
2615:
2610:
2604:
2602:
2596:
2595:
2593:
2592:
2586:
2581:
2576:
2570:
2568:
2562:
2561:
2559:
2558:
2552:
2547:
2542:
2536:
2534:
2521:
2513:
2512:
2510:
2509:
2503:
2498:
2493:
2487:
2485:
2479:
2478:
2475:
2474:
2472:
2471:
2469:Leigh syndrome
2465:
2463:
2457:
2456:
2454:
2453:
2442:
2441:
2436:
2431:
2430:
2429:
2415:
2414:
2413:
2408:
2407:
2406:
2390:
2388:
2382:
2381:
2379:
2378:
2373:
2368:
2367:
2366:
2361:
2350:
2349:
2348:
2347:
2342:
2341:
2340:
2330:
2329:
2328:
2318:
2313:
2312:
2311:
2306:
2301:
2296:
2280:
2279:
2278:
2277:
2272:
2267:
2262:
2257:
2256:
2255:
2245:
2244:
2243:
2233:
2232:
2231:
2226:
2221:
2205:
2203:
2196:Extrapyramidal
2189:
2180:
2178:encephalopathy
2169:
2168:
2165:
2164:
2162:
2161:
2156:
2151:
2150:
2149:
2138:
2136:
2129:
2128:
2126:
2125:
2124:
2123:
2113:
2108:
2107:
2106:
2101:
2096:
2091:
2080:
2078:
2069:
2063:
2062:
2055:nervous system
2050:
2049:
2042:
2035:
2027:
2018:
2017:
2015:
2014:
2004:
1994:
1984:
1974:
1963:
1960:
1959:
1957:
1956:
1951:
1950:
1949:
1939:
1934:
1929:
1924:
1919:
1914:
1909:
1904:
1899:
1894:
1888:
1886:
1885:Related topics
1882:
1881:
1879:
1878:
1877:
1876:
1866:
1861:
1856:
1851:
1846:
1841:
1836:
1834:Medical school
1830:
1828:
1820:
1819:
1816:
1815:
1813:
1812:
1811:
1810:
1800:
1795:
1790:
1788:Sleep medicine
1785:
1784:
1783:
1773:
1768:
1763:
1762:
1761:
1751:
1746:
1741:
1735:
1730:
1729:
1728:
1718:
1713:
1708:
1703:
1698:
1693:
1692:
1691:
1681:
1676:
1671:
1666:
1661:
1652:
1647:
1646:
1645:
1635:
1630:
1625:
1620:
1615:
1614:
1613:
1608:
1601:Anesthesiology
1598:
1593:
1587:
1585:
1581:
1580:
1578:
1577:
1576:
1575:
1570:
1565:
1560:
1555:
1550:
1540:
1539:
1538:
1533:
1531:Neuroradiology
1528:
1517:
1515:
1509:
1508:
1506:
1505:
1500:
1495:
1490:
1485:
1480:
1474:
1472:
1468:Obstetrics and
1464:
1463:
1461:
1460:
1455:
1450:
1445:
1440:
1435:
1430:
1425:
1420:
1419:
1418:
1408:
1403:
1398:
1393:
1383:
1381:
1373:
1372:
1370:
1369:
1364:
1363:
1362:
1352:
1350:Trauma surgery
1347:
1342:
1337:
1332:
1327:
1322:
1321:
1320:
1313:Otolaryngology
1310:
1305:
1300:
1295:
1290:
1289:
1288:
1283:
1273:
1268:
1263:
1258:
1252:
1250:
1241:
1239:subspecialties
1229:
1228:
1221:
1220:
1213:
1206:
1198:
1173:
1166:
1165:
1164:
1160:
1159:
1156:
1155:
1144:
1132:
1131:
1129:
1125:
1124:
1121:
1120:
1104:
1099:
1098:
1096:
1095:Classification
1088:
1087:External links
1085:
1084:
1083:
1077:
1062:
1056:
1041:
1004:
1001:
998:
997:
940:
903:
860:
834:
796:
745:
707:
678:(2): 167–177.
651:
637:. 2016-03-21.
622:
554:
505:
465:
419:
418:
416:
413:
407:
404:
387:
384:
355:
352:
319:
316:
315:
314:
308:
305:
302:
296:
268:
265:
220:
217:
216:
215:
209:
195:
141:
138:
125:
122:
110:nervous system
82:
81:
78:
74:
73:
70:
64:
63:
60:
56:
55:
52:
46:
45:
41:
40:
32:
31:
28:
24:
23:
15:
9:
6:
4:
3:
2:
2990:
2979:
2976:
2974:
2971:
2969:
2966:
2964:
2961:
2960:
2958:
2933:
2930:
2929:
2928:
2925:
2924:
2917:
2914:
2912:
2909:
2908:
2907:
2904:
2902:
2899:
2895:
2892:
2890:
2887:
2883:
2880:
2878:
2875:
2873:
2870:
2869:
2867:
2865:
2862:
2860:
2857:
2855:
2852:
2850:
2847:
2845:
2842:
2841:
2840:
2837:
2835:
2832:
2831:
2830:
2828:
2824:
2823:
2818:
2815:
2813:
2810:
2808:
2805:
2804:
2803:
2801:
2797:
2796:
2794:
2792:
2788:
2782:
2779:
2777:
2774:
2773:
2771:
2769:
2765:
2762:
2760:
2756:
2753:
2749:
2739:
2736:
2734:
2731:
2729:
2726:
2724:
2721:
2719:
2718:Reye syndrome
2716:
2714:
2711:
2710:
2708:
2704:
2698:
2695:
2693:
2690:
2686:
2683:
2681:
2678:
2676:
2673:
2671:
2670:Hydrocephalus
2668:
2667:
2666:
2663:
2662:
2660:
2658:
2654:
2642:
2638:
2637:
2636:
2633:
2632:
2630:
2626:
2620:
2616:
2614:
2611:
2609:
2606:
2605:
2603:
2601:
2597:
2591:
2587:
2585:
2582:
2580:
2577:
2575:
2572:
2571:
2569:
2567:
2563:
2557:
2553:
2551:
2548:
2546:
2543:
2541:
2538:
2537:
2535:
2533:
2529:
2525:
2522:
2520:
2514:
2508:
2504:
2502:
2499:
2497:
2494:
2492:
2489:
2488:
2486:
2484:
2483:Demyelinating
2480:
2470:
2467:
2466:
2464:
2462:
2458:
2452:
2449:
2448:
2447:
2446:
2440:
2437:
2435:
2432:
2428:
2425:
2424:
2423:
2419:
2416:
2412:
2409:
2405:
2402:
2401:
2400:
2397:
2396:
2395:
2392:
2391:
2389:
2387:
2383:
2377:
2374:
2372:
2371:Restless legs
2369:
2365:
2362:
2360:
2357:
2356:
2355:
2352:
2351:
2346:
2343:
2339:
2336:
2335:
2334:
2331:
2327:
2324:
2323:
2322:
2319:
2317:
2314:
2310:
2309:Blepharospasm
2307:
2305:
2302:
2300:
2297:
2295:
2292:
2291:
2290:
2287:
2286:
2285:
2282:
2281:
2276:
2273:
2271:
2268:
2266:
2265:Hemiballismus
2263:
2261:
2258:
2254:
2251:
2250:
2249:
2246:
2242:
2239:
2238:
2237:
2234:
2230:
2227:
2225:
2222:
2220:
2217:
2216:
2215:
2212:
2211:
2210:
2207:
2206:
2204:
2202:
2197:
2193:
2190:
2188:
2184:
2181:
2179:
2174:
2170:
2160:
2157:
2155:
2152:
2148:
2145:
2144:
2143:
2140:
2139:
2137:
2135:
2130:
2122:
2119:
2118:
2117:
2116:Brain abscess
2114:
2112:
2109:
2105:
2102:
2100:
2097:
2095:
2092:
2090:
2087:
2086:
2085:
2082:
2081:
2079:
2077:
2073:
2070:
2068:
2064:
2060:
2056:
2048:
2043:
2041:
2036:
2034:
2029:
2028:
2025:
2013:
2005:
2003:
1999:
1995:
1993:
1985:
1983:
1975:
1973:
1965:
1964:
1961:
1955:
1952:
1948:
1945:
1944:
1943:
1940:
1938:
1935:
1933:
1930:
1928:
1925:
1923:
1920:
1918:
1917:Public health
1915:
1913:
1910:
1908:
1905:
1903:
1900:
1898:
1897:Allied health
1895:
1893:
1890:
1889:
1887:
1883:
1875:
1872:
1871:
1870:
1867:
1865:
1862:
1860:
1857:
1855:
1852:
1850:
1847:
1845:
1842:
1840:
1837:
1835:
1832:
1831:
1829:
1827:
1821:
1809:
1806:
1805:
1804:
1801:
1799:
1796:
1794:
1791:
1789:
1786:
1782:
1779:
1778:
1777:
1774:
1772:
1769:
1767:
1764:
1760:
1757:
1756:
1755:
1752:
1750:
1747:
1745:
1742:
1739:
1736:
1734:
1731:
1727:
1724:
1723:
1722:
1719:
1717:
1714:
1712:
1709:
1707:
1706:Oral medicine
1704:
1702:
1701:Ophthalmology
1699:
1697:
1694:
1690:
1687:
1686:
1685:
1682:
1680:
1677:
1675:
1672:
1670:
1667:
1665:
1662:
1660:
1656:
1653:
1651:
1648:
1644:
1641:
1640:
1639:
1636:
1634:
1631:
1629:
1626:
1624:
1621:
1619:
1616:
1612:
1609:
1607:
1604:
1603:
1602:
1599:
1597:
1594:
1592:
1589:
1588:
1586:
1582:
1574:
1571:
1569:
1566:
1564:
1563:Cytopathology
1561:
1559:
1556:
1554:
1551:
1549:
1546:
1545:
1544:
1541:
1537:
1534:
1532:
1529:
1527:
1524:
1523:
1522:
1519:
1518:
1516:
1514:
1510:
1504:
1503:Urogynecology
1501:
1499:
1496:
1494:
1491:
1489:
1486:
1484:
1481:
1479:
1476:
1475:
1473:
1471:
1465:
1459:
1456:
1454:
1451:
1449:
1446:
1444:
1441:
1439:
1436:
1434:
1431:
1429:
1426:
1424:
1421:
1417:
1414:
1413:
1412:
1409:
1407:
1406:Endocrinology
1404:
1402:
1399:
1397:
1394:
1392:
1388:
1385:
1384:
1382:
1380:
1374:
1368:
1365:
1361:
1358:
1357:
1356:
1353:
1351:
1348:
1346:
1343:
1341:
1338:
1336:
1333:
1331:
1328:
1326:
1323:
1316:
1315:
1314:
1311:
1309:
1306:
1304:
1301:
1299:
1296:
1294:
1291:
1287:
1284:
1282:
1279:
1278:
1277:
1274:
1272:
1269:
1267:
1264:
1262:
1259:
1257:
1254:
1253:
1251:
1249:
1245:
1242:
1240:
1234:
1230:
1226:
1219:
1214:
1212:
1207:
1205:
1200:
1199:
1196:
1188:
1187:
1186:
1180:
1176:
1154:
1150:
1149:
1145:
1143:
1139:
1138:
1134:
1133:
1130:
1126:
1119:
1115:
1114:
1110:
1106:
1105:
1102:
1097:
1093:
1080:
1078:9780080470566
1074:
1070:
1069:
1063:
1059:
1057:9781496321077
1053:
1049:
1048:
1042:
1038:
1034:
1029:
1024:
1020:
1016:
1012:
1007:
1006:
993:
989:
984:
979:
975:
971:
967:
963:
959:
955:
951:
944:
925:
921:
914:
907:
899:
895:
891:
887:
883:
879:
875:
871:
864:
852:
851:ScienceDirect
848:
844:
838:
822:
818:
814:
810:
809:
800:
792:
788:
783:
778:
773:
768:
764:
760:
756:
749:
733:
729:
725:
721:
720:
711:
703:
699:
694:
689:
685:
681:
677:
673:
669:
662:
660:
658:
656:
640:
636:
632:
626:
618:
614:
609:
604:
599:
594:
590:
586:
582:
575:
573:
571:
569:
567:
565:
563:
561:
559:
550:
544:
529:
525:
524:www.orpha.net
521:
514:
512:
510:
494:
490:
486:
480:
478:
476:
474:
472:
470:
461:
455:
439:
435:
434:www.orpha.net
431:
424:
420:
412:
403:
402:is underway.
401:
397:
393:
383:
381:
377:
373:
369:
365:
361:
360:abnormalities
351:
349:
345:
341:
337:
332:
330:
329:mitochondrial
326:
312:
309:
306:
303:
300:
297:
295:
294:consciousness
291:
290:
289:
287:
283:
273:
264:
261:
257:
253:
249:
245:
241:
240:transcription
237:
233:
229:
225:
213:
210:
207:
203:
199:
196:
193:
189:
184:
180:
177:
173:
169:
165:
162:
161:
156:
152:
150:
146:
137:
135:
131:
121:
119:
113:
111:
107:
104:
100:
96:
92:
88:
79:
75:
71:
69:
65:
61:
57:
53:
51:
47:
42:
38:
33:
29:
25:
20:
2926:
2825:
2798:
2759:Degenerative
2496:Inflammatory
2443:
2376:Stiff-person
2214:Parkinsonism
2187:Degenerative
2084:Encephalitis
2067:Inflammation
2057:, primarily
1922:Rural health
1907:Nanomedicine
1458:Rheumatology
1389: /
1308:Hand surgery
1293:Neurosurgery
1183:
1182:
1181:profile for
1178:
1146:
1135:
1107:
1067:
1046:
1018:
1014:
957:
953:
943:
931:. Retrieved
924:the original
919:
906:
876:(1): 12–24.
873:
869:
863:
837:
825:. Retrieved
807:
799:
762:
758:
748:
743:Revised 2015
736:. Retrieved
718:
710:
675:
671:
643:. Retrieved
634:
625:
588:
584:
532:. Retrieved
523:
497:. Retrieved
488:
442:. Retrieved
433:
423:
409:
406:Epidemiology
389:
357:
333:
321:
299:Neurological
278:
259:
223:
222:
211:
197:
163:
144:
143:
129:
127:
114:
90:
86:
85:
72:MRI, CT scan
2911:Fazio–Londe
2751:Both/either
2545:Generalised
2404:Early-onset
2399:Alzheimer's
2134:spinal cord
1992:Wikiproject
1781:Venereology
1726:Neonatology
1623:Dermatology
1478:Gynaecology
1470:gynaecology
1453:Pulmonology
1271:Eye surgery
1233:Specialties
870:Clin. Genet
313:dysfunction
286:spinal cord
256:inheritance
27:Other names
2957:Categories
2519:paroxysmal
2491:Autoimmune
2284:Dyskinesia
2154:Meningitis
2132:Brain and
1754:Psychiatry
1740:(PM&R)
1733:Phlebology
1721:Pediatrics
1548:Anatomical
1513:Diagnostic
1493:Obstetrics
1443:Nephrology
1428:Hematology
1423:Geriatrics
1416:Hepatology
1401:Cardiology
1391:Immunology
1137:Patient UK
827:2017-08-30
738:2017-08-30
645:2016-03-25
534:2016-03-25
499:2016-03-25
415:References
386:Treatments
311:Cerebellar
301:regression
282:cerebellum
275:Cerebellum
232:cerebellum
176:amino acid
168:nucleotide
158:L-Glutamin
2516:Episodic/
2394:Tauopathy
2345:Akathisia
2333:Myoclonus
2316:Athetosis
2248:Tauopathy
1942:Physician
1826:education
1684:Neurology
1679:Narcology
1543:Pathology
1521:Radiology
1396:Angiology
1360:Andrology
974:2305-5839
960:(2): 25.
765:(1): 14.
591:(1): 33.
396:pathology
354:Diagnosis
348:apoptosis
325:glutamate
212:Subtype 3
198:Subtype 2
179:glutamine
164:Subtype 1
106:condition
103:inherited
77:Treatment
2882:SMALED2B
2877:SMALED2A
2574:Migraine
2566:Headache
2532:epilepsy
2528:Seizures
2386:Dementia
2289:Dystonia
1972:Category
1448:Oncology
1379:medicine
1377:Internal
1225:Medicine
1148:Orphanet
992:26889478
933:25 March
920:Orphanet
898:25779423
890:17204042
821:Archived
817:20301317
791:23331413
732:Archived
728:20301452
702:22508507
639:Archived
617:21619691
543:cite web
528:Archived
493:Archived
454:cite web
444:8 August
438:Archived
318:Genetics
260:Type III
219:Type 2/3
192:mutation
183:proteins
130:subtypes
50:Symptoms
2894:SMA-PME
2889:SMA-PCH
2872:SMALED1
2584:Tension
2579:Cluster
2304:Meige's
2121:Amoebic
2012:Outline
1982:Commons
1927:Therapy
1824:Medical
1387:Allergy
1355:Urology
1248:Surgery
1175:Scholia
1037:8931575
983:4731605
782:3558377
693:3328388
608:3123548
489:Patient
400:disease
372:lesions
364:neurons
344:calcium
336:protein
248:in-vivo
236:histone
228:retinal
224:Type II
2613:Stroke
2427:Pick's
2354:Tremor
2321:Chorea
2002:Portal
1869:MD–PhD
1177:has a
1075:
1054:
1035:
990:
980:
972:
896:
888:
854:
815:
789:
779:
726:
700:
690:
631:"SCA1"
615:
605:
149:ataxia
145:Type I
140:Type 1
2927:both:
2859:DSMA1
2854:SMAX2
2849:SMAX1
2829:only:
2802:only:
2706:Other
2628:Other
2540:Focal
2173:Brain
2076:Brain
1584:Other
1179:topic
1118:G11.1
1015:Brain
927:(PDF)
916:(PDF)
894:S2CID
252:ATXN7
124:Types
59:Types
2530:and
2241:PKAN
2236:NBIA
1073:ISBN
1052:ISBN
1033:PMID
988:PMID
970:ISSN
935:2016
886:PMID
813:PMID
787:PMID
724:PMID
698:PMID
613:PMID
549:link
460:link
446:2019
91:ADCA
2844:SMA
2827:LMN
2800:UMN
2791:MND
2657:CSF
2608:TIA
2253:PSP
2229:NMS
2198:and
2059:CNS
1318:ENT
1236:and
1109:ICD
1023:doi
1019:119
978:PMC
962:doi
878:doi
843:doi
777:PMC
767:doi
688:PMC
680:doi
676:197
603:PMC
593:doi
380:MRI
202:RNA
172:DNA
120:).
2959::
2768:SA
2275:OA
2270:HD
2219:PD
1657:/
1153:99
1151::
1140::
1116::
1113:10
1031:.
1017:.
1013:.
986:.
976:.
968:.
956:.
952:.
918:.
892:.
884:.
874:71
872:.
819:.
785:.
775:.
761:.
757:.
730:.
696:.
686:.
674:.
670:.
654:^
633:.
611:.
601:.
587:.
583:.
557:^
545:}}
541:{{
526:.
522:.
508:^
491:.
487:.
468:^
456:}}
452:{{
436:.
432:.
136:.
2420:/
2175:/
2046:e
2039:t
2032:v
1217:e
1210:t
1203:v
1189:.
1111:-
1101:D
1081:.
1060:.
1039:.
1025::
994:.
964::
958:4
937:.
900:.
880::
845::
830:.
793:.
769::
763:8
741:.
704:.
682::
648:.
619:.
595::
589:6
551:)
537:.
502:.
462:)
448:.
89:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.