65:
37:
498:
Although the prevalence and incidence are unknown, FTDP-17 is a very rare condition. Over 100 families worldwide have been identified with 38 different tau gene mutations. The FTDP-17 phenotype varies not only between families with different mutations but also between and within families with
262:
FTDP-17 usually appears gradually. Individuals who have reached the fully developed stage of the disease exhibit an array of symptoms that include at least two of the three cardinal features of FTDP-17, which include behavioral and personality disturbances,
270:
FTDP-17 clinical features differ significantly among affected individuals, regardless of whether they inherit the same or distinct mutations. Even members of the same family, for instance, can have different clinical presentations.
817:
802:
787:
490:
Individual patients' and genetic kindreds' prognoses and rates of disease progression vary greatly, ranging from several months to several years, and in exceptional cases, as long as two decades.
419:
mutations account for up to 50% of FTDP-17 cases. More than 50 pathogenic MAPT mutations have been identified. FTDP-17 is inherited in an autosomal dominant manner.
439:
A combination of characteristic clinical and pathological features, as well as molecular genetic analysis, is required for a definitive diagnosis of FTDP-17.
306:
function are relatively preserved during the early stages of the disease, despite cognitive disturbances. Initially, progressive speech difficulties with
250:, and has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. FTDP-17 was defined during the
427:
The disorder's pathogenetic mechanisms are believed to be associated with a changed ratio of tau isoforms or with tau's capacity to bind
574:
Wszolek, Zbigniew K; Tsuboi, Yoshio; Ghetti, Bernardino; Pickering-Brown, Stuart; Baba, Yasuhiko; Cheshire, William P (August 9, 2006).
925:
654:"Refining Frontotemporal Dementia With Parkinsonism Linked to Chromosome 17: Introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)"
523:
832:
340:
can be the first symptom of the disease, and it is noteworthy that some FTDP-17 patients have been misdiagnosed with
455:
443:
should be provided to affected and at-risk individuals; penetrance is incomplete for the majority of subtypes.
345:
315:
303:
165:
935:
30:
FTDP-17, Frontotemporal dementia with parkinsonism-17, Familial Pick's disease, Wilhelmsen-Lynch disease.
224:
796:
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447:
177:
169:
64:
930:
843:
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102:
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In addition to other manifestations, the behavioral and personality abnormalities may include
82:
462:(CBD) in the absence of a positive family history or molecular genetic data. Other familial
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8:
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283:
106:
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138:
53:
625:
Mitra K, Gangopadhaya PK, Das SK (Jun 2003). "Parkinsonism plus syndrome—a review".
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275:
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94:
78:
653:
576:"Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)"
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36:
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appears later in the progression of the illness or not at all. FTDP-17
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291:
903:
865:
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Currently, treatment for FTDP-17 is only symptomatic and supportive.
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389:
323:
319:
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110:
58:
524:"Frontotemporal dementia with parkinsonism-17: MedlinePlus Genetics"
870:
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331:
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affecting both axial and appendicular musculature, a lack of
837:
214:
Frontotemporal dementia and parkinsonism linked to chromosome 17
22:
Frontotemporal dementia and parkinsonism linked to chromosome 17
806:
791:
709:
Siuda, Joanna; Fujioka, Shinsuke; Wszolek, Zbigniew K. (2014).
393:
373:
369:
279:
299:
243:
207:
Estimated to affect 1 in 1 million people in the
Netherlands.
711:"Parkinsonian syndrome in familial frontotemporal dementia"
235:
376:
therapy. Other motor disturbances seen in FTDP-17 include
326:, verbal and vocal perseverations develop. Eventually,
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557:
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652:Boeve, Bradley F.; Hutton, Mike (1 April 2008).
314:disorders can be seen. Memory, orientation, and
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252:International Consensus Conference in Ann Arbor
586:(1). Springer Science and Business Media LLC.
294:, illicit drug addiction, verbal and physical
702:
518:
516:
514:
512:
446:Clinically, FTDP-17 may resemble a number of
651:
509:
63:
35:
744:
726:
685:
609:
591:
372:, as well as poor or no response to
318:functions deteriorate as a result, while
234:. FTDP-17 is caused by mutations in the
918:
450:. FTDP-17 is frequently confused with
380:unrelated to medication, supranuclear
431:and facilitate microtubule assembly.
257:
81:, inappropriate emotional responses,
895:MAPT-Related Frontotemporal Dementia
715:Parkinsonism & Related Disorders
302:behaviors. Memory, orientation, and
13:
422:
44:This condition is inherited in an
14:
952:
765:
580:Orphanet Journal of Rare Diseases
348:. However, in some families, the
728:10.1016/j.parkreldis.2014.06.004
356:is distinguished by symmetrical
493:
645:
618:
456:progressive supranuclear palsy
346:progressive supranuclear palsy
199:and symptomatic interventions.
166:progressive supranuclear palsy
1:
502:
477:
396:, eyelid closing and opening
485:
434:
7:
926:Neurodegenerative disorders
721:(9). Elsevier BV: 957–964.
474:(MSA) should be ruled out.
10:
957:
448:neurodegenerative diseases
145:molecular genetic analysis
880:
773:
670:10.1001/archneur.65.4.460
460:corticobasal degeneration
267:, and motor dysfunction.
203:
192:
178:dementia with Lewy bodies
170:corticobasal degeneration
155:
137:
125:
117:
72:
52:
43:
34:
26:
21:
464:frontotemporal dementias
411:
238:(microtubule associated
174:Parkinson-plus syndromes
472:multiple system atrophy
384:, both lower and upper
232:Parkinson plus syndrome
186:multiple system atrophy
593:10.1186/1750-1172-1-30
392:, postural and action
242:) gene located on the
157:Differential diagnosis
658:Archives of Neurology
254:, Michigan, in 1996.
499:the same mutations.
362:postural instability
107:semantic paraphasias
936:Cognitive disorders
468:Parkinson's disease
342:Parkinson's disease
284:compulsive behavior
182:Parkinson's disease
143:Clinical criteria,
121:Forties or fifties.
881:External resources
441:Genetic counseling
312:executive function
308:non-fluent aphasia
265:cognitive deficits
258:Signs and symptoms
222:autosomal dominant
79:Loss of inhibition
46:autosomal dominant
913:
912:
282:, poor judgment,
225:neurodegenerative
211:
210:
139:Diagnostic method
129:Mutations in the
16:Medical condition
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330:and progressive
288:hyperreligiosity
105:-like features,
87:personal hygiene
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39:
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18:
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627:Neurology India
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530:. March 1, 2017
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423:Pathophysiology
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774:Classification
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766:External links
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664:(4): 460–464.
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452:Pick's disease
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370:resting tremor
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162:Pick's disease
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95:hallucinations
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388:dysfunction,
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276:disinhibition
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248:chromosome 17
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633:(2): 183–8.
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532:. Retrieved
527:
497:
494:Epidemiology
489:
481:
445:
438:
429:microtubules
426:
415:
386:motor neuron
358:bradykinesia
354:parkinsonism
350:parkinsonism
344:or sporadic
338:Parkinsonism
336:
316:visuospatial
304:visuospatial
273:
269:
261:
251:
217:
213:
212:
83:restlessness
890:GeneReviews
534:November 2,
528:MedlinePlus
454:, sporadic
240:protein tau
164:, sporadic
118:Usual onset
103:Parkinson's
27:Other names
920:Categories
871:2995675012
855:DiseasesDB
503:References
478:Management
470:(PD), and
458:(PSP), or
406:dysarthria
382:gaze palsy
296:aggression
292:alcoholism
197:Palliative
904:Q15043641
866:SNOMED CT
737:1353-8020
678:0003-9942
602:1750-1172
486:Prognosis
435:Diagnosis
402:dysphagia
390:myoclonus
324:palilalia
320:echolalia
228:tauopathy
204:Frequency
193:Treatment
111:echolalia
99:delusions
59:Neurology
54:Specialty
941:Dementia
755:24998994
696:18413467
639:14570999
378:dystonia
374:levodopa
366:rigidity
334:set in.
332:dementia
220:) is an
91:dementia
74:Symptoms
900:Scholia
849:D057180
797:8A00.1Y
746:4160731
687:2746630
611:1563447
398:apraxia
394:tremors
300:abusive
218:FTDP-17
48:manner.
838:600274
827:331.19
753:
743:
735:
694:
684:
676:
637:
608:
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404:, and
328:mutism
298:, and
280:apathy
184:, and
147:, and
126:Causes
109:, and
61:
860:10034
812:G31.8
412:Cause
244:q arm
133:gene.
844:MeSH
833:OMIM
822:9-CM
751:PMID
733:ISSN
692:PMID
674:ISSN
635:PMID
598:ISSN
536:2023
417:MAPT
310:and
236:MAPT
230:and
131:MAPT
818:ICD
803:ICD
788:ICD
741:PMC
723:doi
682:PMC
666:doi
606:PMC
588:doi
246:of
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544:^
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511:^
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820:-
805:-
790:-
780:D
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216:(
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113:.
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