Motor Neurone Disease
Gene: SPAST
- Disease penetrance is age dependent and mostly complete, an estimated 6% of individuals remain asymptomatic throughout life, and is reported to be lower in females (PMID:30476002).
- Age at onset of symptoms ranges from infancy to the eighth decade. Age of onset and disease severity are variable even among family members with the same pathogenic variant. (PMID:30476002)
- Multiple loss of function variants have been reported, while a dominant negative mechanism has been stipulated for a small number of missense variants (PMID:30006150).Created: 24 Sep 2020, 5:37 a.m. | Last Modified: 24 Sep 2020, 5:37 a.m.
Panel Version: 0.4560
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 4, autosomal dominant (MIM#182601), AD
Publications
Variants in this GENE are reported as part of current diagnostic practice
The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons. There are multiple reports of the condition mimicking MND.
Sources: Expert listCreated: 19 Jun 2020, 5:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Gene: spast has been classified as Green List (High Evidence).
Gene: spast has been classified as Green List (High Evidence).
gene: SPAST was added gene: SPAST was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPAST were set to 16765570; 19364936 Review for gene: SPAST was set to GREEN