Spastic paraplegia, ataxia, and impaired intellectual development

Preferred Label : Spastic paraplegia, ataxia, and impaired intellectual development;

CISMeF acronym : SPAR;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : SPAR; Spastic paraplegia, ataxia, and mental retardation;

Description : Hedera et al. (2002) reported a kindred in which 6 members over 3 generations were affected with a dominantly inherited neurologic disorder manifesting either as uncomplicated spastic paraplegia with or without ataxia or spastic paraplegia, ataxia, and mental retardation. The clinical phenotype was strikingly variable, both between and within generations. Two patients in the first 2 generations, a female and a male, had pure spastic paraplegia characterized by lower limb spasticity, extensor plantar responses, bladder dysfunction, and reduced sensation in the lower extremities. Two patients in the second and third generations, both female, had an ataxia-spasticity phenotype characterized by ataxia, dysarthria, abnormal extraocular movements, and mild dystonia in addition to the symptoms of pure spastic paraplegia. Two patients in the third generation, both male, had spasticity, ataxia, dystonia, and mental retardation. Three examined subjects had spinal cord atrophy, and the 2 with ataxia had cerebellar atrophy. Multiple forms of spinocerebellar ataxia (e.g., SCA1; 164400) and hereditary spastic paraplegia (e.g., SPG3; 182600) were excluded by mutation or linkage analysis. Although clinical symptoms suggested genetic anticipation, Hedera et al. (2002) did not detect expanded trinucleotide repeats segregating with the disorder. *FIELD* RF 1. Hedera, P.; Rainier, S.; Zhao, X. P.; Schalling, M.; Lindblad, K.; Yuan, Q.-P.; Ikeuchi, T.; Trobe, J.; Wald, J. J.; Eldevik, O. P.; Kluin, K.; Fink, J. K.: Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder. Neurology 58: 411-416, 2002. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 607565;

Details

Origin ID

607565;

UMLS CUI

C1843661;

Automatic exact mappings (from CISMeF team)
- perciformes [MeSH Descriptor]
Currated CISMeF NLP mapping
- spastic paraplegia, ataxia, and mental retardation [MeSH concept]
- spastic paraplegia, ataxia, and mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Ankle clonus [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Intellectual disability [HPO term]
- Knee and ankle clonus [HPO term]
- Knee clonus [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spastic paraplegia, ataxia, and mental retardation [MeSH Supplementary Concept]
- spastic paraplegia, ataxia, and mental retardation [MeSH concept]

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