A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.

Movement Disorders : Official Journal of the Movement Disorder Society
Parvoneh PoorkajT D Bird

Abstract

The parkinsonian syndromes comprise a highly heterogeneous group of disorders. Although 15 loci are linked to predominantly familial Parkinson's disease (PD), additional PD loci are likely to exist. We recently identified a multigenerational family of Danish and German descent in which five males in three generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity for which X-linked disease transmission was strongly suggested (XPDS). Autopsy in one individual failed to reveal synucleinopathy; however, there was a significant four-repeat tauopathy in the striatum. Our objective was to identify the locus responsible for this unique parkinsonian disorder. Members of the XPDS family were genotyped for markers spanning the X chromosome. Two-point and multipoint linkage analyses were performed and the candidate region refined by analyzing additional markers. A multipoint LOD(max) score of 2.068 was obtained between markers DXS991 and DXS993. Haplotype examination revealed an approximately 20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease in all affected males and obligate carrier females and was not carried by unaffected at-risk males. To reduce ...Continue Reading

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Citations

Apr 19, 2013·Human Molecular Genetics·Olena KorvatskaWendy H Raskind
Oct 16, 2015·Parkinsonism & Related Disorders·Harsh V GuptaTuhin Virmani
Jan 10, 2014·Clinical Science·Anthony RousselleMichael Bader
May 20, 2016·Ageing Research Reviews·Daniel J Colacurcio, Ralph A Nixon
Oct 20, 2018·Frontiers in Neurology·Xue ZhangJianmin Zhang
Apr 16, 2019·The Journal of Clinical Investigation·Takuo HiroseMatthias Groszer
May 8, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Giulia Di LazzaroKailash P Bhatia

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