Adult onset hereditary spastic paraplegia
Gene: PSEN1
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
Variants in this GENE are reported as part of current diagnostic practice
Primary phenotype is dementiaCreated: 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
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.
Vicotria: Green. In sheffield HSP panelCreated: 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
Publications for gene: PSEN1 were set to
Source Yorkshire and North East GLH was added to PSEN1.
Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1
Source South West GLH was added to PSEN1.
Source Expert Review Green was added to PSEN1. Mode of inheritance for gene PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques for gene: PSEN1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to PSEN1.
gene: PSEN1 was added gene: PSEN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: PSEN1 was set to