Hereditary Spastic Paraplegia - adult onset

Gene: CPT1C

Green List (high evidence)

Two more individuals identified as part of a cohort study.

Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

Created: 20 Sep 2020, 8:07 a.m. | Last Modified: 15 Mar 2021, 11:43 p.m.

Panel Version: 0.60

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 73, autosomal dominant 616282

Publications

• 30564185

Green List (high evidence)

Two unrelated families and a supportive mouse model.

Created: 19 Apr 2020, 9:10 a.m. | Last Modified: 19 Apr 2020, 9:10 a.m.

Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 73, autosomal dominant 616282

Publications

• 25751282
• 23973755