Hereditary spastic paraplegia type 15

Also known as: Kjellin syndrome; SPG15

Recessive HSP with retinal degeneration.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, childhood or adolescent onset
Gene(s) involved: ZFYVE26

Etiology & mechanism

ZFYVE26 (spastizin) mutations.

Gene(s) involved (1)

ZFYVE26

Symptoms & signs (4)

cognitive declinepigmentary maculopathyspastic paraparesisthin corpus callosum

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