Benign familial chorea: an association with intellectual impairment.

Benign hereditary chorea (BHC) has been characterized as an autosomal dominant disorder manifesting nonprogressive chorea without dementia. However, there has been controversy regarding its existence. Diagnosis has been based solely on clinical criteria with many patients and families demonstrating "atypical" features and until recently, no diagnostic test was available for confirmation. Since 2002, mutations in the thyroid transcription factor (TITF-1) gene have been identified as resulting in some cases of BHC. Additionally, the clinical spectrum has expanded to include abnormalities in thyroid and lung with the putative mechanism of disease resulting from gene haploinsufficiency and reduced protein product. This review summarizes both a historical perspective and our current understanding of BHC.

show abstract

“…scores. In one study,9 affected individuals had I.Q. results averaging 10 points lower than their unaffected relatives.…”

Section: Cognitive Functionmentioning

confidence: 95%

Benign hereditary chorea revisited: A journey to understanding

Kleiner‐Fisman

Lang

2007

Movement Disorders

View full text Add to dashboard Cite

show abstract

“…32 Most reports describe abnormal movements of the head, limbs, and trunk, but in some descriptions the legs were not or only mildly affected, 25,28,29,33 whereas they were predominantly involved in others. 4,34 The chorea was usually distal, 26,35 but a few reports emphasized a proximal and axial distribution with or without tremor, and may in fact have described myoclonus rather than chorea. 30 Tone was reported as decreased in most 26,30,36 but increased in some.…”

Section: Unusual Features In the Remaining 31 Previouslymentioning

confidence: 99%

“…37 Mild dysarthria was mentioned in a number of reports, 27,38 but severe dysarthria was the exception 3 and often associated with other abnormalities. 3 Likewise, mild cognitive impairment has been found in many families 3,35 and has been considered to be a part of the syndrome, but obvious mental retar-dation was a rare finding, usually associated with other abnormalities. 4 Falls were often present in early childhood but mostly disappeared in adults.…”

Section: Unusual Features In the Remaining 31 Previouslymentioning

confidence: 99%

Benign hereditary chorea?Entity or syndrome?

et al. 2000

View full text Add to dashboard Cite

The existence of “benign hereditary chorea” (BHC), a rare disorder of childhood‐onset familial chorea without other neurologic features or progression, has increasingly been questioned, because many patients with this disorder were subsequently diagnosed with different conditions. We therefore analyzed all published reports of families with BHC and contacted their authors to obtain follow‐up information. In addition, we reviewed all patients in whom at least one of the authors had at some stage considered a possible diagnosis of BHC. Of 42 families reported to have BHC in the literature, we obtained follow‐up information on 11 families, three of which had been seen by us. An additional seven new, unreported families and four sporadic cases, in which this diagnosis was suspected by at least one of us at one point, were reviewed and videotaped. On reviewing the videotapes of the 11 families in the literature, the diagnosis of BHC was changed in nine. In the remaining two families, atypical features suggesting different diagnoses were present in the original reports. In none of our own previously unreported patients (seven familial and four sporadic) was BHC diagnosed unequivocally by all evaluators after review of their video recordings. In three of these families and all four sporadic patients the diagnosis was changed; in one family multifocal myoclonus could not be differentiated from chorea by any author, and in the remaining three families no consensus between the raters was found. Apart from the 11 families in whom we obtained follow‐up information, analysis of the remaining 31 reports on families with BHC also revealed atypical features in the majority. We conclude that BHC is not a diagnosis, but a syndrome that requires further investigation. Whether there is a distinct entity “BHC” with a single gene abnormality remains to be proven.

show abstract

“…The disorder demonstrates both intra-and interfamilial variability. Some BHC families show atypical additional features, such as dysarthria and gait disturbances (Chun et al 1973), mental impairment (Leli et al 1984), or axial dystonia and progression in adulthood (Schady and Meara 1988). The latter report could describe a variant of the disorder, but might as well be an entirely separate entity, considering the progressiveness of the chorea in that family (Wheeler et al 1993).…”

Section: Introductionmentioning

confidence: 98%

Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q

Vries

Arts

Breedveld

et al. 2000

The American Journal of Human Genetics

View full text Add to dashboard Cite

Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by an early-onset nonprogressive chorea. The early onset and the benign course distinguishes BHC from the more common Huntington disease (HD). Previous studies on families with BHC have shown that BHC and HD are not allelic. We studied a large Dutch kindred with BHC and obtained strong evidence for linkage between the disorder and markers on chromosome 14q (maximum LOD score 6.32 at recombination fraction 0). The BHC locus in this family was located between markers D14S49 and D14S1064, a region spanning approximately 20.6 cM that contains several interesting candidate genes involved in the development and/or maintenance of the CNS: glia maturation factor-beta, GTP cyclohydrolase 1 and the survival of motor neurons (SMN)-interacting protein 1. The mapping of the BHC locus to 14q is a first step toward identification of the gene involved, which might, subsequently, shed light on the pathogenesis of this and other choreatic disorders.

show abstract

Benign familial chorea: an association with intellectual impairment.

Cited by 25 publications

References 5 publications

Benign hereditary chorea revisited: A journey to understanding

Benign hereditary chorea revisited: A journey to understanding

Benign hereditary chorea?Entity or syndrome?

Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q

Contact Info

Product

Resources

About