Atypical Huntington's disease with the clinical presentation of behavioural variant of frontotemporal dementia

Sutovsky, StanislavComenius Univ, Dept Neurol, Fac Med, Bratislava, Slovakia. (author)

Huntington's disease is an incurable, adult-onset, autosomal dominant inherited disorder caused by an expanded trinucleotide repeat (CAG). In this study, we describe a Huntington's disease patient displaying clinical symptoms of the behavioural variant of frontotemporal dementia in the absence of tremor and ataxia. The clinical onset was at the age of 36 years and the disease progressed slowly (18 years). Genetic testing revealed expanded trinucleotide CAG repeats in the Huntingtin gene, together with a Glu318Gly polymorphism in presenilin 1. Neuropathological assessment revealed extensive amyloid beta (A beta) aggregates in all cortical regions. No inclusions displaying hyperphosphorylated tau or phosphorylated transactive response DNA-binding protein 43 (TDP43) were found. A high number of p62 (sequestosome 1) immunopositive intranuclear inclusions were seen mainly in the cortex, while subcortical areas were affected to a lesser extent. Confocal microscopy revealed that the majority of p62 intranuclear lesions co-localised with the fused-in-sarcoma protein (FUS) immunostaining. The morphology of the inclusions resembled intranuclear aggregates in Huntington's disease. The presented proband suffered from Huntington's disease showed atypical distribution of FUS positive intranuclear aggregates in the cortical areas with concomitant Alzheimer's disease pathology.

Smolek, TomasSlovak Acad Sci, Inst Neuroimmunol, Dubravska 9, Bratislava 84510, Slovakia. (author)
Alafuzoff, IrinaUppsala universitet,Experimentell och klinisk onkologi(Swepub:uu)irial548 (author)
Blaho, AndrejComenius Univ, Dept Neurol, Fac Med, Bratislava, Slovakia. (author)
Parrak, VojtechSlovak Acad Sci, Inst Neuroimmunol, Dubravska 9, Bratislava 84510, Slovakia.;Inst Neuroimmunol, Bratislava, Slovakia. (author)
Turcani, PeterComenius Univ, Dept Neurol, Fac Med, Bratislava, Slovakia. (author)
Palkovic, MichalComenius Univ, Dept Pathol Anat, Bratislava, Slovakia. (author)
Petrovic, RobertComenius Univ, Fac Med, Inst Med Biol Genet & Clin Genet, Bratislava, Slovakia. (author)
Novak, MichalSlovak Acad Sci, Inst Neuroimmunol, Dubravska 9, Bratislava 84510, Slovakia. (author)
Zilka, NorbertSlovak Acad Sci, Inst Neuroimmunol, Dubravska 9, Bratislava 84510, Slovakia.;Inst Neuroimmunol, Bratislava, Slovakia. (author)
Comenius Univ, Dept Neurol, Fac Med, Bratislava, Slovakia.Slovak Acad Sci, Inst Neuroimmunol, Dubravska 9, Bratislava 84510, Slovakia. (creator_code:org_t)

In:Journal of neural transmission: Springer Science and Business Media LLC123:12, s. 1423-14330300-95641435-1463

By the author/editor: Sutovsky, Stanis ...; Smolek, Tomas; Alafuzoff, Irina; Blaho, Andrej; Parrak, Vojtech; Turcani, Peter; show more...; Palkovic, Michal; Petrovic, Robert; Novak, Michal; Zilka, Norbert; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Neurology

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