Spastic paraplegia 10, autosomal dominant

Preferred Label : Spastic paraplegia 10, autosomal dominant;

Symbol : SPG10;

CISMeF acronym : SPG10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spastic paraplegia 10 with or without peripheral neuropathy;

Description : SPG10 is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, 118210). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by Goizet et al., 2008 and Crimella et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin-5A gene (KIF5A, 602821.0001);

Prefixed ID : #604187;

Details

Origin ID

604187;

UMLS CUI

C1858712;

Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 10 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 10 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 10 (disorder) [SNOMED CT concept]
- Spastic Paraplegia 10 [NCIt concept]
- Spastic paraplegia 10, autosomal dominant [MeSH concept]
- hereditary spastic paraplegia 10 [DO Concept]
- spastic paraplegia 10, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 10 [DO Concept]
Genes related to phenotype
- Kinesin family member 5a [OMIM gene]
HPO term(s)
- Ankle clonus [HPO term]
- Ankle or knee clonus [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Distal sensory impairment [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Knee clonus [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Parkinsonism [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 10 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 10 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 10 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 10 (disorder) [SNOMED CT concept]
- Spastic Paraplegia 10 [NCIt concept]
- Spastic paraplegia 10, autosomal dominant [MeSH concept]
- hereditary spastic paraplegia 10 [DO Concept]
- spastic paraplegia 10, autosomal dominant [MeSH Supplementary Concept]

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