Adult onset hereditary spastic paraplegia

Gene: CAPN1

Green List (high evidence)

Childhood and Adult onset. Knockout animal studies show effect on development.

Created: 8 May 2019, 4:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 27153400
• 29678961
• 28566166

I don't know

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.

Green List (high evidence)

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

Phenotypes
Spastic paraplegia 76 autosomal recessive, 616907