Adult onset hereditary spastic paraplegia

Gene: PSEN1

Green List (high evidence)

Rare that spastic paraparesis is presenting symptom but one patient identified using Sheffield panel with spastic paraparesis and no reported dementia.

Created: 10 May 2019, 8:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 22517194

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Primary phenotype is dementia

Created: 27 Apr 2019, 4:17 p.m.

Phenotypes
Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques

I don't know

Green gene with Red 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, 4:14 p.m.

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.

Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.

Created: 27 Apr 2019, 4:30 p.m.

Green List (high evidence)

Vicotria: Green. In sheffield HSP panel

Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques