Hereditary spastic paraplegia type 17

Also known as: Silver syndrome; SPG17

Dominant HSP with distal amyotrophy.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: onset in adolescence to adulthood
Gene(s) involved: BSCL2

Etiology & mechanism

BSCL2 seipin mutations.

Gene(s) involved (1)

BSCL2

Symptoms & signs (3)

distal amyotrophyhand muscle wastingspastic paraparesis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.