Hereditary spastic paraplegia type 1

Also known as: L1 syndrome; MASA syndrome; SPG1

X-linked complicated hereditary spastic paraplegia within the L1 syndrome spectrum.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Neurogenetics
Sex & age distribution: Male: affected, nearly all; Female: carriers usually unaffected or mild; Children: yes, congenital
Gene(s) involved: L1CAM

Etiology & mechanism

Mutations in the L1 cell adhesion molecule impair axon guidance and corticospinal development.

Gene(s) involved (1)

L1CAM

Symptoms & signs (4)

adducted thumbshydrocephalusintellectual disabilityspastic paraparesis

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