Childhood onset hereditary spastic paraplegia

Gene: CAPN1

Green List (high evidence)

Childhood and Adult onset. Knockout animal studies show effect on development. PMID: 29678961 describes patient with onset aged 14.

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 27153400
• 29678961
• 28566166

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: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 76 autosomal recessive, 616907

I don't know

Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.

Created: 21 May 2019, 4:50 p.m.

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 4:54 p.m.

Comment on list classification: changed to Amber after internal clinical review

Created: 28 Jan 2019, 12:48 p.m.

I don't know

Age at onset 19 to 39 according to 27153400. consider marking as Amber following discussions with GLH

Created: 14 Jan 2019, 4:35 p.m.