Pincus and Chutorian (1967) and Haerer et al. (1967) described an early-onset, nonprogressive form of chorea not associated with intellectual deterioration.
Bird et al. (1976) pointed out that hereditary benign chorea is a socially embarrassing condition ... Pincus and Chutorian (1967) and Haerer et al. (1967) described an early-onset, nonprogressive form of chorea not associated with intellectual deterioration. Bird et al. (1976) 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. For purposes of genetic counseling and prognostication, it is important to distinguish BCH from Huntington disease (HD; 143100). Robinson and Thornett (1985) reported a 10-year-old boy with this disorder whose father was the only other affected person known in the family. Corticosteroids given in multiple courses for asthma invariably were associated with an abrupt improvement in frequency and amplitude of his chorea. The authors suggested that the improvement resulted from modulation of neurotransmitter function by the agent. Schady and Meara (1988) described a family in which chorea began in childhood and affected predominantly the head, face, and arms. Dysarthria appeared later, followed in 2 family members by elements of an axial dystonia. There was no intellectual impairment. Unlike previously described families, symptoms progressed steadily up to the eighth decade, causing considerable physical disability. Kleiner-Fisman et al. (2003) reported a family in which 5 members over 4 generations had typical features of BHC. Delayed motor development and chorea began in early childhood and followed a slowly progressive course. Neuropathologic examination of 1 patient showed mild frontal-parietal-temporal atrophy, but no other abnormalities, including normal striatum and pigmented substantia nigra. Other regions of the brain showed nonspecific astrocytosis without noticeable neuronal loss.
Breedveld et al. (2002) reported a small BHC family with a de novo deletion of 1.2 Mb, including the TITF1 gene (600635.0001). They also described 3 other multigenerational families with BHC who had heterozygous point mutations in the ... Breedveld et al. (2002) reported a small BHC family with a de novo deletion of 1.2 Mb, including the TITF1 gene (600635.0001). They also described 3 other multigenerational families with BHC who had heterozygous point mutations in the TITF1 gene (600635.0002-600635.0004). In a family with BHC, Kleiner-Fisman et al. (2003) identified a heterozygous mutation in the TITF1 gene (600635.0007).