Ataxia - adult onset
Gene: VAMP1
Autosomal dominant neurodegenerative disorder characterised by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Onset is between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs.
Single variant reported in four Newfoundland families, founder effect.Created: 22 Sep 2020, 5:35 a.m. | Last Modified: 22 Sep 2020, 5:35 a.m.
Panel Version: 0.111
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic ataxia 1, autosomal dominant, MIM# 108600
Publications
Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Tag founder tag was added to gene: VAMP1.
Publications for gene: VAMP1 were set to
Gene: vamp1 has been classified as Amber List (Moderate Evidence).
gene: VAMP1 was added gene: VAMP1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VAMP1 were set to Autosomal dominant spastic ataxia 1, 108600; Spastic ataxia 1, autosomal dominant, 108600