Adult onset dystonia, chorea or related movement disorder
Gene: UCHL1In addition to previous reports of Spastic paraplegia 79, autosomal recessive (OMIM:615491), PMID: 35986737 reports a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy in cases with heterozygous UCHL1 variants. The variants included 13 heterozygous loss-of-function variants (15 families) and a heterozygous in-frame insertion (3 families). The affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years). However, dystonia was only reported in one case in this study (Table 5S).Created: 17 Jan 2023, 3:20 p.m. | Last Modified: 28 Jul 2023, 11:56 a.m.
Panel Version: 3.5
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Single family only for association with PD. Three families reported with SPG79, which can include ataxia/tremor.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Spastic paraplegia 79, autosomal recessive, 615491; ?{Parkinson disease 5, susceptibility to}, 613643
Publications
Mode of inheritance for gene: UCHL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; ?{Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to' MONDO:0013340 to {?Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340; Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Phenotypes for gene: UCHL1 were changed from {?Parkinson disease 5, susceptibility to}, OMIM:613643 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; ?{Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to' MONDO:0013340
Publications for gene: UCHL1 were set to 28007905; 23359680; 29735986; 10048490
Phenotypes for gene: UCHL1 were changed from ?{Parkinson disease 5, susceptibility to}; ?{Parkinson disease 5, susceptibility to}, 613643; Spastic paraplegia 79, autosomal recessive, 615491 to {?Parkinson disease 5, susceptibility to}, OMIM:613643
Gene: uchl1 has been classified as Amber List (Moderate Evidence).
Added phenotypes ?{Parkinson disease 5, susceptibility to}, 613643; Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1 Publications for gene UCHL1 were changed from to 28007905; 23359680; 29735986; 10048490
Source NHS GMS was added to UCHL1.
Source South West GLH was added to UCHL1.
gene: UCHL1 was added gene: UCHL1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to}