Disease Information for Chorea, hereditary benign (14q13)

under construction gene locus 14q13; CHOREA, HEREDITARY BENIGN; BCH also called HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA;(Gene locus 14q13); Autosomal dominant; Chorea; Delayed motor development; Dysarthria may occur; Gait abnormalities; Movements are exacerbated by anxiety; Severity of symptoms peak in the second decade and do not progress; No dementia; Onset in childhood (usually before age 5 years); MOLECULAR BASIS ; Caused by mutation in the thyroid transcription factor-1 gene (TITF1,)

CLINICAL FEATURES ; an early-onset, non-progressive form of chorea not associated with intellectual deterioration; one case showed Corticosteroids given in multiple courses because of asthma invariably were associated with an abrupt improvement in frequency and amplitude of his chorea; improvement resulted from modulation of neurotransmitter function; chorea began in childhood and affected predominantly the head, face, and arms. Dysarthria appeared later, family members by elements of an axial dystonia. There was no intellectual impairment; Delayed motor development and chorea began in early childhood and followed a slowly progressive course. Neuropathology examination showed mild frontal-parietal-temporal atrophy, but no other abnormalities, including normal striatum and pigmented substantia nigra; the brain showed nonspecific astrocytosis without noticeable neuronal loss. pointed out that hereditary benign chorea is a socially embarrassing condition and, perhaps for that reason, may be associated with behavioral problems and learning difficulties; it is important to distinguish BCH from Huntington disease (HD;. There is no possibility that benign hereditary chorea is allelic with Huntington disease; Linkage to 14q ;Other variable features in these families included gait difficulties, pyramidal signs, slow saccades, and abnormal reflexes. The 4 unlinked families had a slightly later age at onset and other signs besides chorea, including myoclonic jerks, dystonia, tremor, and tics; In a family with BCH, identified a heterozygous mutation in the TITF1 gene); also Characterized as a Hereditary chorea without dementia." (OMIM Reference)

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