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Hensman Moss, DJ; Poulter, M; Beck, J; Hehir, J; Polke, JM; Campbell, T; Adamson, G; Mudanohwo, E; McColgan, P; Haworth, A; Wild, EJ; Sweeney, MG; Houlden, H; Mead, S; Tabrizi, SJ (28 January 2014).
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gene encoding junctophilin-3. It is almost exclusively restricted to populations of
African descent and is actually more common than Huntington's disease in Black South Africans.
439:
459:
319:"The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype"
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disorder linked to chromosome 4p15.3. It has only been reported in two families, and the causative gene is unidentified.
464:
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60:
396:
179:
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64:
187:
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153:
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8:
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270:"C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies"
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318:
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89:
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35:
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Wild, EJ; Tabrizi, SJ (December 2007). "Huntington's disease phenocopy syndromes".
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type 17 (SCA-17), occasionally called HDL-4. Others include mutations in
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syndrome but are not solely defined as HDL syndromes. The most common is
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gene. More broadly, inherited prion diseases in general can mimic HD.
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40:
72:
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Systemic atrophies primarily affecting the central nervous system
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A Huntington's disease-like presentation may also be caused by
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HDL2 is the most common HD-like syndrome and is caused by CTG/
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96:. Only described in one family, it is caused by an eight-
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67:(HD) in that they typically produce a combination of
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317:Cooper-Knock, J; Shaw, PJ; Kirby, J (March 2014).
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224:
342:
293:
75:and behavioural or psychiatric problems.
162:, spinocerebellar ataxias type 1 and 3,
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440:Extrapyramidal and movement disorders
391:603218, 604802 606438, 603218, 604802
413:33521, 34626.htm 33520, 33521, 34626
168:dentatorubral-pallidoluysian atrophy
49:Huntington's disease-like syndromes
13:
22:Huntington's disease-like syndrome
14:
476:
363:
172:brain iron accumulation disorders
460:Trinucleotide repeat disorders
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261:
1:
200:
455:Autosomal dominant disorders
286:10.1212/WNL.0000000000000061
239:10.1097/wco.0b013e3282f12074
227:Current Opinion in Neurology
59:) are a family of inherited
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148:can cause an HD-like or HD
10:
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61:neurodegenerative diseases
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335:10.1007/s00401-014-1251-9
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26:
21:
180:benign hereditary chorea
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100:repeat insertion in the
78:
127:
109:
83:
71:, cognitive decline or
188:mitochondrial diseases
154:spinocerebellar ataxia
146:neurogenetic disorders
116:CAG triplet expansions
63:that closely resemble
323:Acta Neuropathologica
465:Huntington's disease
88:HDL1 is an unusual,
65:Huntington's disease
184:Friedreich's ataxia
164:neuroacanthocytosis
134:autosomal recessive
90:autosomal dominant
445:Genetic syndromes
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53:HD-like syndromes
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16:Medical condition
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369:
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176:Wilson's disease
132:HDL3 is a rare,
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195:acquired causes
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17:
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5:
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435:Rare syndromes
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372:Classification
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364:External links
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329:(3): 333–45.
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94:prion disease
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57:HDL syndromes
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30:HDL syndrome
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280:(4): 292–9.
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233:(6): 681–7.
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98:octapeptide
27:Other names
429:Categories
408:DiseasesDB
201:References
274:Neurology
170:(DRPLA),
150:phenocopy
92:familial
41:Neurology
36:Specialty
353:24493408
304:24363131
255:37287959
247:17992089
73:dementia
402:C580174
344:3925297
295:3929197
159:C9orf72
118:in the
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302:
292:
253:
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144:Other
69:chorea
251:S2CID
140:Other
79:Types
55:, or
397:MeSH
386:OMIM
349:PMID
300:PMID
243:PMID
186:and
128:HDL3
121:JPH3
110:HDL2
103:PRNP
84:HDL1
339:PMC
331:doi
327:127
290:PMC
282:doi
235:doi
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209:^
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182:,
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174:,
166:,
378:D
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51:(
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