Benign hereditary chorea: An update

Abstract Benign hereditary chorea (BHC, MIM 118700 ) is a rare autosomal dominant disorder manifesting with chorea in conjunction with hypothyroidism and respiratory problems, a triad also named “brain-lung-thyroid syndrome”. BHC is characterized by childhood onset with minimal or no progression int...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2011-06, Vol.17 (5), p.301-307
Main Authors: Inzelberg, Rivka, Weinberger, Moran, Gak, Eva
Format: Article
Language:English
Subjects:
Animals
Benign hereditary chorea
Brain - pathology
Brain - physiopathology
Brain-thyroid-lung syndrome
Chorea
Chorea - epidemiology
Chorea - genetics
Chorea - pathology
Chorea - physiopathology
Congenital hypothyroidism
Disease Models, Animal
DNA-Binding Proteins - genetics
Haploinsufficiency - genetics
Humans
Lung - pathology
Lung - physiopathology
Molecular Chaperones - genetics
Neurology
Nuclear Proteins - genetics
Phosphoproteins - genetics
Thyroid Gland - pathology
Thyroid Gland - physiopathology
Thyroid Nuclear Factor 1
Thyroid transcription factor
Transcription Factors - genetics
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Summary:Abstract Benign hereditary chorea (BHC, MIM 118700 ) is a rare autosomal dominant disorder manifesting with chorea in conjunction with hypothyroidism and respiratory problems, a triad also named “brain-lung-thyroid syndrome”. BHC is characterized by childhood onset with minimal or no progression into adult life and normal cognitive function. The genetic basis of BHC has been partially resolved, when mutations in the TTF1 gene on chromosome 14q13 encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 transcriptional function or haploinsufficiency is associated with this disorder. TTF1 (also known as TITF1 , TEBP or NKX2–1 ), belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis. Clinical evaluation of TTF1 gene mutations carrier patients exposed the involvement of each of the triad’s components characterized by heterogeneity between index cases and even within families. This review highlights the current updates on expanded clinical aspects of BHC, imaging and treatment experience, its genetic markers, proposed molecular mechanisms, animal models and link to cancer.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2011.01.002