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Gene: SPART

Green List (high evidence)

SPART, HGNC:18514. Causes autosomal recessive spastic paraplegia-20, also known as Troyer syndrome. from OMIM: The disorder has its onset in early childhood with dysarthria, distal muscle wasting, and difficulty in learning to walk. Lower limb spasticity and contractures usually make walking impossible by the third or fourth decade. Can also be associated with some mild cognitive impairment. Associated with weakness and atrophy of thenar, hypothenar, and dorsal interosseous muscles. More than 5 unrelated families reported. Enriched in Amish population.

Created: 3 Feb 2025, 6:34 a.m. | Last Modified: 3 Feb 2025, 6:34 a.m.

Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Troyer syndrome MIM#275900

Publications

• 12134148
• 28679690
• 6022528
• 20437587

Green List (high evidence)

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). More than 5 unrelated families reported.

Created: 22 Jul 2022, 2:40 a.m. | Last Modified: 22 Jul 2022, 2:40 a.m.

Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Troyer syndrome (MIM#275900); SPG20; MONDO:0010156

Publications

• 31535723
• 28875386
• 28679690