SPG 10
ereditary spastic paraplegia 10
Synonyms
SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY; SPASTIC PARAPLEGIA 10 WITH PERIPHERAL NEUROPATHY; SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Summary
Spastic paraplegia-10 (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., 2009 and Crimella et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). [from OMIM]
Available tests
46 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (46 available)
Molecular Genetics Tests
Targeted variant analysis (14)
Mutation scanning of select exons (1)
Sequence analysis of the entire coding region (45)
Deletion/duplication analysis (37)
Genes See tests for all associated and related genes
Associated genesHelp
KIF5A106 tests
Also known as: ALS25, D12S1889, MY050, NEIMY, NKHC, SPG10, KIF5A
Summary: kinesin family member 5A
Related conditions
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C Clinical test, R Research test, O OMIM, G GeneReviews
CROGHereditary spastic paraplegia 10
Clinical features
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Imported from Human Phenotype Ontology (HPO)
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Abnormality of limbs
Abnormality of the genitourinary system
Abnormality of the musculoskeletal system
Abnormality of the nervous system
Constitutional symptom
Reviews
PubMed Clinical Queries
Reviews in PubMed
Clinical resources
MedGen
OMIM
Orphanet
Molecular resources
OMIM
View KIF5A variations in ClinVar
RefSeqGene
Coriell Institute for Medical Research
Consumer resources
MalaCards
NCATS Office of Rare Diseases Research (GARD)
MedlinePlus
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