Benign hereditary chorea or hereditary idiopathic dystonia?
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Diagnosis, Differential↗
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[Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community].
INTRODUCTION: The benign chorea hereditary (BCH, OMIM 118700) represents a childhood movement disorder characterized by its early onset, a slow progressive course (mostly stable) and the absence of mental compromise, which contrast with the clinical features exhibited by the Huntington Disease. CASE REPORTS: Here we describe a multigenerational, extended and inbreed family belonging to a genetic isolate, the Paisa community from Antioquia Colombia, with seven children exhibiting clinical features of BCH. Even though some patients with BCH are heterozygous for a dominant mutation in the thyroid transcription factor-1 gene (TITF1), the pattern in this family resembles a recessive mode of inheritance, which suggests that genetic heterogeneity may be playing a role. CONCLUSION: Currently, linkage analysis is underway to determine if TITF1 is the gene responsible for this movement disorder in this family.
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Alterations of striatal neurons in benign hereditary chorea.
Benign hereditary chorea (BHC) recently has been associated with mutations in TITF-1 gene, although a pathological study of an individual with BHC and a TITF-1 mutation revealed no significant gross or microscopic abnormalities using standard methods. Immunohistochemical staining of striatal tissue from a BHC-affected postmortem brain was performed using antibodies against neurotransmitters of interneurons whose tangential migration is mediated by TITF-1. There was a loss of most TITF-1-mediated striatal interneurons in the BHC specimen compared to four matched control brains.
Antibodies↗
Cerebral metabolism of glucose in benign hereditary chorea.
Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by chorea of early onset with little or no progression. There is marked clinical variability in this disease with some subjects having onset in infancy and others with onset in early adulthood. In contrast to Huntington's disease (HD), there is no dementia. Computed tomography is normal in all subjects with no evidence of caudate nucleus atrophy. We present the results of positron emission tomography using 18F-2-fluorodeoxyglucose on three patients with this disorder from two families. Cerebral glucose metabolism in one patient was decreased in the caudate nucleus, as previously reported in HD. The other two persons from a second family showed a relative decrease in metabolic rates of glucose in the caudate when compared with the thalamus. It appears that caudate hypometabolism is not specific for HD. These findings suggest that the caudate nucleus may play a significant role in the pathophysiology of some persons with BHC.
Adult↗
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.
Benign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a slowly progressing or nonprogressing chorea, without cognitive decline or other progressive neurologic dysfunction, but also by the existence of heterogeneity of the clinical presentation within and among families. The genetic cause of BHC is the presence of either point mutations or deletions in the thyroid transcription factor 1 gene (TITF1). We studied a Portuguese BHC family composed of two probands: a mother and her only son. The patients were identified in a neurology out-patient clinic showing mainly involuntary choreiform movements since childhood, myoclonic jerks, falls, and dysarthria. We performed magnetic resonance imaging (MRI), electroencephalogram (EEG), nerve conduction studies, thyroid ultrasound scan, biochemical thyroid tests, and electrocardiogram (ECG). We excluded Huntington disease by appropriate genetic testing and sequenced the entire TITF1 gene for both patients. The patients showed MRI alterations: (1) in the mother, abnormal hyperintense pallida and cortical cerebral/cerebellar atrophy; and (2) in the son, small hyperintense foci in the cerebellum and subtle enlargement of the fourth ventricle. Sequence analysis of the TITF1 gene in these patients revealed the presence of a heterozygous C > T substitution at nucleotide 745, leading to the replacement of a glutamine at position 249 for a premature stop codon. A previously undescribed nonsense mutation in the TITF1 gene was identified as being the genetic cause of BHC in this family.
Adult↗
Benign hereditary chorea.
Benign hereditary chorea is an uncommon inherited form of childhood chorea that can be mistaken for much more serious disorders, such as Huntington disease. The clinical manifestations of this condition are reviewed, emphasizing the differential diagnosis, treatment modalities, and evaluation of childhood chorea.
Adolescent↗
Mutations in TITF-1 are associated with benign hereditary chorea.
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. In contrast to Huntington disease (MIM 143100), BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial dystonia and gait disturbances. Previously, we identified a locus for BHC on chromosome 14 and subsequently identified additional independent families linked to the same locus. Recombination analysis of all chromosome 14-linked families resulted initially in a reduction of the critical interval for the BHC gene to 8.4 cM between markers D14S49 and D14S278. More detailed analysis of the critical region in a small BHC family revealed a de novo deletion of 1.2 Mb harboring the TITF-1 gene, a homeodomain-containing transcription factor essential for the organogenesis of the lung, thyroid and the basal ganglia. Here we report evidence that mutations in TITF-1 are associated with BHC.
Amino Acid Sequence↗
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.
Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by the onset of non-progressive chorea in childhood and the absence of cognitive impairment. Using primers flanking the (CAG)n repeat in IT15, expansion of which is associated with HD, we have detected an abnormal PCR product in four affected members from one family where affected subjects were originally reported to have BHC. The expanded allele contains 38 repeats in the affected parent and this undergoes further enlargement to 39 and 45 repeats in the two affected offspring. We conclude that the diagnostic criteria for BHC should include a normal result from analysis for the (CAG)n expansion identified in HD.
Adult↗
Clinical and genetic heterogeneity in benign hereditary chorea.
BACKGROUND: Benign hereditary chorea (BHC) is an autosomal dominant disorder that can be distinguished from Huntington disease by its early onset, stable or only slightly progressive course, and absence of mental deterioration. The variation in clinical features is such that its very existence has been doubted. The authors recently described the localization of a gene responsible for BHC on chromosome 14q in a large Dutch family. OBJECTIVE: To report results of extensive clinical and linkage analyses for this Dutch family and six other families with BHC. RESULTS: Three of the seven families had linkage to a region on chromosome 14q13.1-q21.1. HOMOG analysis showed odds of 10 x 10(11) in favor of locus heterogeneity. Haplotype analyses for the linked families resulted in a reduction of the critical interval for the BHC gene to 8.4 cM between marker D14S49 and marker D14S278. Clinically, these three families had a homogeneous picture with early-onset chorea, sometimes accompanied by slight ataxia in walking, but without dystonia, myoclonic jerks, or dysarthria. The severity of the choreatic movements tended to abate in adolescence or early adulthood. In the unlinked families, symptoms and signs were more heterogeneous as to age at onset and the occurrence of myoclonic jerks or dystonia. CONCLUSIONS: BHC is a clinically and genetically heterogeneous disorder, with one well-defined clinical syndrome mapping to chromosome 14q.
Adolescent↗
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.
Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.
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Benign hereditary chorea: clinical, genetic, and pathological findings.
Benign hereditary chorea is an autosomal dominant disorder presenting with childhood-onset chorea, no dementia, and little or no progression. We present a family with typical clinical features of benign hereditary chorea. Pathological investigation of the brain of an affected family member who died of an unrelated condition showed no significant gross or histological abnormalities. Genetic evaluation showed a novel single nucleotide substitution of intron 2 of the TITF-1 gene (also referred to as TTF, NKX2.1, and T/ebp) on chromosome 14 which is predicted to have drastic consequences on the maturation processes of TITF-1.
Amino Acid Substitution↗
[The use of family trees and the notion of heredity: a case study of hereditary chorea].
This paper analyzes the development and use of visual tools known as "family trees" that allow medical practitioners to see hereditary family diseases. Family trees, consisting of family names and a tree diagram on personal traits, became popular among neurologists during the late 19th century. However, social scientists have devoted only scant attention to the historical and social processes through which, before the rediscovery of Mendelian laws, medical practitioners came to use family trees as scientific devices for nosographical classification of hereditary diseases, such as hereditary chorea (one of the initial terms used to describe Huntington's disease). The purpose of this paper is to trace the complex processes by which family histories, namely the descriptive nosography of family members and family trees became distinct during the late 19th century. This paper argues that family trees of hereditary chorea became and important clinical tool, with the establishment of teaching hospitals, although, in the case of hereditary chorea, family trees were used to support different interpretations of the notion of heredity. The use of family trees was made possible by three conditions including the centralization of medical care, the standardization of medical records, and the circulation of medical information among medical practitioners.
Chorea↗
[ON THE PROBLEM OF EARLY MANIFESTATIONS OF HEREDITARY CHOREA].
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Child↗
GEORGE HUNTINGTON (1850-1916) AND HEREDITARY CHOREA.
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Chorea↗
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).
A genetic linkage study between benign hereditary chorea and the locus D4S10 using the DNA probe G8 has shown two recombinations in five small families. There were negative lod scores at recombination fractions that show conclusive evidence of linkage in 16 larger British Huntington's disease families. We suggest that although benign hereditary chorea and Huntington's disease may have some clinical similarities they are probably at two different loci.
Chromosome Mapping↗
[Hereditary chorea--update].
Understanding molecular genetical background of hereditary chorea has recently been progressed so far. Triplet repeat expansion diseases including, Huntington disease, in which CAG expansion has been identified in the IT-15 or Huntingtin gene, and Huntington disease like-2, in which CTG expansion in junctophilin-3 (JPH3) gene occurs, causes selective degeneration of striatum in the brain. Octapeptide repeat expansion in the prion gene in Huntington disease like-1 has been also identified. Neuroacanthocytosis syndromes including McLeod syndrome and chorea-acanthocytosis cause acanthocytosis in the red blood cells and chorea due to the degeneration of caudate nucleus in the brain. The XK gene on the X chromosome is mutated to lose its function in McLeod syndrome. CHAC gene coding chorein is mutated to lead loss of function in chorea-acanthocytosis. Selective degeneration in the striatum, especially in the caudate nucleus might be associated with the molecular cascade of expanded polyglutamine or polyleucine or octapeptide and the loss of function of the XK protein and of chorein protein.
Chorea↗
Benign hereditary chorea--entity or syndrome?
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.
Adolescent↗
Benign hereditary chorea--response to steroids.
A child with benign hereditary chorea is described, whose movement disorder remitted with systemic steroids. It is suggested that this effect, not previously described, relies on modulation of neurotransmitter function.
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