Hereditary spastic paraplegia - adult onsetGene: CAPN1
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.
https://doi.org/10.1016/j.ejmg.2018.12.010 . Whole exome sequencing revealed novel pathogenic CAPN1 mutations in four patients from 3 families of Turkish, Japanese, and Punjabi descent and all were consanguineous. Onset in the four patients 20 and 37 years. Two also had mild ataxia. The phenotype of AR CAPN1 mutations appears to be spastic paraplegia with or without ataxia; onset commonly in adulthood. Eye movement abnormalities, skeletal defects, peripheral neuropathy and amyotrophy can sometimes be seen
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 76 autosomal recessive, 616907
Publications for gene: CAPN1 were set to
Source Yorkshire and North East GLH was added to CAPN1.
Source Expert Review Green was added to CAPN1. Mode of inheritance for gene CAPN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to CAPN1.
gene: CAPN1 was added gene: CAPN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CAPN1 was set to