Huntington disease-like syndrome

MedGen UID:: 777988
•Concept ID:: C3711380
•: Disease or Syndrome

Synonyms:	Huntington Disease-Like Syndrome; Huntington Disease-Like Syndromes; Huntington's Disease Phenocopies; Huntington's Disease Phenocopy Syndromes; Huntington's Disease-Like Syndromes
SNOMED CT:	Huntington disease phenocopy syndrome (702376003); Huntington disease-like syndrome disorder (702376003); Huntington disease-like syndrome (702376003)

Monarch Initiative:	MONDO:0015548
Orphanet:	ORPHA158266

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Huntington disease-like syndrome

Huntington disease-like syndrome

Recent clinical studies

Etiology

Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data.

Rikos D, Marogianni C, Provatas A, Bourinaris T, Arnaoutoglou M, Stathis P, Patrinos GP, Dardiotis E, Hadjigeorgiou GM, Xiromerisiou G
Tremor Other Hyperkinet Mov (N Y) 2020 Jun 12;10:5. doi: 10.5334/tohm.61. PMID: 32775019 Free PMC Article

A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci.

Baine FK, Peerbhai N, Krause A
J Neurol Sci 2018 Jul 15;390:200-204. Epub 2018 Apr 21 doi: 10.1016/j.jns.2018.04.031. PMID: 29801887

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S
Am J Hum Genet 2013 Mar 7;92(3):345-53. Epub 2013 Feb 21 doi: 10.1016/j.ajhg.2013.01.011. PMID: 23434116 Free PMC Article

See all (3)

Diagnosis

Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data.

Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.

Kaur J, Parveen S, Shamim U, Sharma P, Suroliya V, Sonkar AK, Ahmad I, Garg J, Anand KS, Laskar S, Chowdhury D, Kushwaha S, Goyal V, Srivastava AK, Singh G, Faruq M
J Huntingtons Dis 2020;9(3):283-289. doi: 10.3233/JHD-200398. PMID: 32675418

A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci.

Baine FK, Peerbhai N, Krause A
J Neurol Sci 2018 Jul 15;390:200-204. Epub 2018 Apr 21 doi: 10.1016/j.jns.2018.04.031. PMID: 29801887

Huntington's disease and Huntington's disease-like syndromes: an overview.

Gövert F, Schneider SA
Curr Opin Neurol 2013 Aug;26(4):420-7. doi: 10.1097/WCO.0b013e3283632d90. PMID: 23812307

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

See all (5)