Adult 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
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 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: 25 Apr 2019, 1:22 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
Source Yorkshire and North East GLH was added to OPA3.
Source Expert Review Green was added to OPA3. Mode of inheritance for gene OPA3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD for gene: OPA3 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to OPA3.
gene: OPA3 was added gene: OPA3 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: OPA3 was set to