Childhood onset hereditary spastic paraplegia
Gene: OPA3
Childhood onset. Onset in second decade.Created: 9 May 2019, 6:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
In 10 Iraqi Jewish patients from 8 different families with 3-methylglutaconic aciduria type III - 2 families with autosomal dominant optic atrophy and cataract, 1 with mild ataxic restlessness. occurs during infancy with a progressive decrease in visual acuity. The choreoathetoid movement disorder manifests later, usually within the first ten years of life. Other clinical features may include spastic paraparesis, mild ataxia and cognitive deficit, dysarthria, and nystagmus. Victoria: GREENCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501; Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD
MGCA3: Onset of neurologic features occur later in childhoodCreated: 14 Jan 2019, 5:17 p.m.
Source Yorkshire and North East GLH was added to OPA3.
Source NHS GMS was added to OPA3.
Source London North GLH was added to OPA3.
Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome for gene: OPA3 Publications for gene OPA3 were changed from 25201222; 11668429; 20301646; 24944951; 25657044 to 11668429; 24944951; 25201222; 25657044; 20301646
Arianna Tucci: MGCA3: Onset of neurologic fea
gene: OPA3 was added gene: OPA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044 Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome