Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
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
Hereditary benign chorea
NKX2-1
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
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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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14.

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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15.

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

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16.

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

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17.

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

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Update: Sept. 26, 2018