Ataxia - paediatric
Gene: PMPCA
Autosomal recessive spinocerebellar ataxia-2 is an neurologic disorder characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. Brain imaging shows cerebellar atrophy. Overall, the disorder is non- or slowly progressive, with survival into adulthood.
More than 5 families reported.Created: 24 Apr 2022, 8:29 a.m. | Last Modified: 24 Apr 2022, 8:29 a.m.
Panel Version: 0.335
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Publications
Gene: pmpca has been classified as Green List (High Evidence).
Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Phenotypes for gene: PMPCA were changed from Autosomal recessive spinocerebellar ataxia 2, 213200 to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Publications for gene: PMPCA were set to
Phenotypes for gene: PMPCA were changed from Autosomal recessive spinocerebellar ataxia 2, 213200; Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. to Autosomal recessive spinocerebellar ataxia 2, 213200
gene: PMPCA was added gene: PMPCA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMPCA were set to Autosomal recessive spinocerebellar ataxia 2, 213200; Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.