A case report of hereditary spastic paraplegia type 58 / 中华神经科杂志
Chinese Journal of Neurology
; (12): 353-358, 2022.
Article
in Zh
| WPRIM
| ID: wpr-933801
Responsible library:
WPRO
ABSTRACT
Hereditary spastic paraplegia type 58 is rare, caused by pathogenic variations in KIF1C gene. Here, a case diagnosed in Qilu Hospital, Shandong University, was reported. The 15-year-old female suffered tremor in bilateral upper limbs which was aggravated gradually since age 8. Cerebellar ataxia, positive pyramidal tract sign and dystonic tremor were prominent on physical examination. The brain magnetic resonance imaging showed T 2-hyperintense signals in bilateral pyramidal tracts, optic radiations and superior cerebellar peduncles, with mild cerebellar atrophy. Whole exon sequencing revealed the unreported homozygous c.425_426delTG (p.V142Gfs*10) mutation which was presumed pathogenic.
Full text:
1
Database:
WPRIM
Language:
Zh
Journal:
Chinese Journal of Neurology
Year:
2022
Document type:
Article