The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy

Udo Rüb, Jean Paul G. Vonsattel, Helmut Heinsen, Horst-Werner Korf

As described in Chap. 2 , the neuropathological hallmark of Huntington's disease (HD) is progressive striatal degeneration, which according to the Vonsattel grading system can be classified into five grades in ascending order of severity of striatal degeneration (Vonsattel 2008; Vonsattel and DiFiglia 1998; Vonsattel et al. 1985). While the affection of the striatum is acknowledged as neuropathological feature of HD since more than a hundred years, the affection of the cerebral cortex during the course of HD and its relevance for the clinical picture were a matter of debate for a long time (see Chaps. 1 and 2 ). However, a large variety of quantitative and qualitative postmortem studies repeatedly demonstrated cortical neuronal loss in HD patients, which is commonly most pronounced in the isocortical neuronal layers III, V, and VI (Brodmann 1909; Bruyn 1968; Bruyn et al. 1979; Estrada-Sanchez and Rebec 2013; Fennema-Notestine et al. 2004; Forno and Jose 1973; Hedreen et al. 1991; Heinsen et al. 1992, 1994, 1999; Heinsen and Rüb 1997; McCaughey 1961; Richardson 1990; Selemon et al. 2004; Sotrel et al. 1991; Vonsattel 2008; Vonsattel and DiFiglia 1998).