A Novel NKX2.1 Mutation in a Family with Hypothyroidism and Benign Hereditary Chorea

Abstract

Our study extends the knowledge of the functional effect of NKX2.1 mutations and further highlights the complexities of genotype-phenotype correlation in the NKX2.1 deficiency syndromes.

Behavioural and cognitive dysfunction across basal ganglia disorders

“…A possible explanation for these findings and previous reports of ADHD in cases of BHC2 3 and Sydenham chorea4 could be the shared pathophysiology between motor and non-motor manifestations in basal ganglia disorders with specific striatal networks dysfunction. As suggested by the authors of this study, BHC has been associated with both anatomical5 6 and functional7 8 striatal abnormalities.…”

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in theTITF1/NKX2-1gene

“…ADHD was relatively frequent in our series (7/28 cases) whereas it is only mentioned in two cases in the literature 17 25. ADHD has been linked to morphological and functional striatal abnormalities, especially in the anterior (associative) striatum, both in humans33 and in animal models 34 35.…”

A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea

“…(Table 1) [12,13,[19][20][21][22]24], indicating that BHC and Brain-Thyroid-Lung syndrome are not entirely distinct but represent extreme points on a spectrum [28]. Intrafamilial phenotypic variation in this disorder may be explained by differences in modifier genes that produce a different genetic background in the same family.…”