Incidentalome

Gene: SPG11

Green List (high evidence)

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades. Ten unrelated families in the original paper.

Created: 28 Sep 2020, 3:36 a.m. | Last Modified: 28 Sep 2020, 3:36 a.m.

Panel Version: 0.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099

Publications

• 20110243

Green List (high evidence)

Dementia or cognitive decline has been reported in at least 3 cases/families with biallelic mutations. Spg11 knockout mice have cognitive deficits.

Created: 6 Feb 2020, 6:24 a.m. | Last Modified: 6 Feb 2020, 6:24 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 11, autosomal recessive MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Amyotrophic lateral sclerosis 5, juvenile MIM#602099

Publications

• 27318863
• 28237315
• 18079167