Disease Information for Chorea, hereditary benign (14q13)

Clinical Manifestations
Signs & Symptoms
Abnormal movements/involuntary
Chorea signs
Hyperkinetic Movement Disorder
Movement or gait disorder/signs
Demographics & Risk Factors
Population Group
Associated Diseases & Rule outs
Associated Disease & Complications
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Gene locus 14q13
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Movement disorder (ex)
PROCESS/Hyperkinetic Movement disorders

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)


External Links Related to Chorea, hereditary benign (14q13)
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)