Regression

Gene: TDP1

Red List (low evidence)

Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is an autosomal recessive neurologic disorder characterized by onset of gait disturbances in the first or second decades of life. Affected individuals have cerebellar ataxia associated with cerebellar atrophy on brain imaging, as well as an axonal sensorimotor neuropathy with distal sensory impairment, hypo- or areflexia, pes cavus, and steppage gait. Three families reported, however all from Middle East and had same homozygous missense variant.

Progressive neurological disorder rather than neurodevelopmental regression.

Created: 26 Mar 2022, 2:28 a.m. | Last Modified: 26 Mar 2022, 2:28 a.m.

Panel Version: 0.453

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250

Publications

• 31182267
• 12244316