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Hereditary benign chorea

Hereditary benign chorea is an autosomal dominant neurological disorder caused by mutations of the NKX2-1 gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Ataxia-pancytopenia syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Epilepsy syndrome
Hereditary benign chorea
NKX2-1
Hereditary brain tumors
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Tuberous sclerosis complex
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Kleiner-Fisman G et al. (2003) Benign hereditary chorea: clinical, genetic, and pathological findings.

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2.

Breedveld GJ et al. (2002) Clinical and genetic heterogeneity in benign hereditary chorea.

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3.

Fernandez M et al. (2001) Hereditary benign chorea: clinical and genetic features of a distinct disease.

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4.

de Vries BB et al. (2000) Benign hereditary chorea of early onset maps to chromosome 14q.

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5.

MacMillan JC et al. (1993) Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

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6.

Yapijakis C et al. (1995) Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family.

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7.

Chun RW et al. (1973) Benign familial chorea with onset in childhood.

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8.

Haerer AF et al. (1967) Hereditary nonprogressive chorea of early onset.

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9.

Pincus JH et al. (1967) Familial benign chorea with intention tremor: a clinical entity.

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10.

Robinson RO et al. (1985) Benign hereditary chorea--response to steroids.

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11.

Stapert JL et al. (1985) Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families.

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12.

Schady W et al. (1988) Hereditary progressive chorea without dementia.

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13.

Quarrell OW et al. (1988) Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).

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14.

Bird TD et al. (1976) Familial essential ("benign") chorea.

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15.

None (1978) Benign hereditary chorea. Clinical and genetic aspects.

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16.

Behan PO et al. (1977) Hereditary chorea without dementia.

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17.

Breedveld GJ et al. (2002) Mutations in TITF-1 are associated with benign hereditary chorea.

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18.

OMIM.ORG article

Omim 118700 external link
Update: Aug. 14, 2020
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