Open AccessH untington's D isease ( HD ): Degeneration of Select Nuclei, Widespread Occurrence of Neuronal Nuclear and Axonal Inclusions in the Brainstem
Author(s) -
Rüb Udo,
Hentschel Matthias,
Stratmann Katharina,
Brunt Ewout,
Heinsen Helmut,
Seidel Kay,
Bouzrou Mohamed,
Auburger Georg,
Paulson Henry,
Vonsattel JeanPaul,
Lange Herwig,
Korf HorstWerner,
Dunnen Wilfred
Publication year - 2014
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.12115
Subject(s) - brainstem , neurodegeneration , neuroscience , pons , nucleus , medial vestibular nucleus , vestibular nuclei , serotonergic cell groups , pontine nuclei , degeneration (medical) , biology , pathology , medicine , anatomy , vestibular system , disease , receptor , serotonergic , serotonin
H untington's disease ( HD ) is a progressive polyglutamine disease that leads to a severe striatal and layer‐specific neuronal loss in the cerebral neo‐and allocortex. As some of the clinical symptoms (eg, oculomotor dysfunctions) suggested a degeneration of select brainstem nuclei, we performed a systematic investigation of the brainstem of eight clinically diagnosed and genetically confirmed HD patients. This post‐mortem investigation revealed a consistent neuronal loss in the substantia nigra, pontine nuclei, reticulotegmental nucleus of the pons, superior and inferior olives, in the area of the excitatory burst neurons for horizontal saccades, raphe interpositus nucleus and vestibular nuclei. Immunoreactive intranuclear neuronal inclusions were present in all degenerated and apparently spared brainstem nuclei and immunoreactive axonal inclusions were observed in all brainstem fiber tracts of the HD patients. Degeneration of brainstem nuclei can account for a number of less well‐understood clinical HD symptoms (ie, cerebellar, oculomotor and vestibular symptoms), while the formation of axonal aggregates may represent a crucial event in the cascades of pathological events leading to neurodegeneration in HD .