Neurology · Neurology / Movement disorders; Neurogenetics
Hereditary spastic paraplegia type 1
also: L1 syndrome; MASA syndrome; SPG1
X-linked complicated hereditary spastic paraplegia within the L1 syndrome spectrum.
- 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
- Alternative names & eponyms
- L1 syndrome; MASA syndrome; SPG1
Etiology & mechanism
Mutations in the L1 cell adhesion molecule impair axon guidance and corticospinal development.
Gene(s) involved (1)
Symptoms & signs (4)
In plain terms, someone with Hereditary spastic paraplegia type 1 may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Shprintzen–Goldberg syndrome
hydrocephalus, intellectual disability
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
1 shared
Apert syndrome
intellectual disability
1 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Borjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Cardiofaciocutaneous syndrome
intellectual disability
1 shared
Cobalamin C syndrome
hydrocephalus
1 shared
Coffin–Lowry syndrome
intellectual disability
1 shared
Coffin–Siris syndrome
intellectual disability
Shares genes with
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