H untington's disease (HD ): the neuropathology of a multisystem neurodegenerative disorder of the human brain
Tóm tắt
Huntington's disease (HD) is an autosomal dominantly inherited, and currently untreatable, neuropsychiatric disorder. This progressive and ultimately fatal disease is named after the American physician George Huntington and according to the underlying molecular biological mechanisms is assigned to the human polyglutamine or CAG‐repeat diseases. In the present article we give an overview of the currently known neurodegenerative hallmarks of the brains of HD patients. Subsequent to recent pathoanatomical studies the prevailing reductionistic concept of HD as a human neurodegenerative disease, which is primarily and more or less exclusively confined to the striatum (ie, caudate nucleus and putamen) has been abandoned. Many recent studies have improved our neuropathological knowledge of HD; many of the early groundbreaking findings of neuropathological HD research have been rediscovered and confirmed. The results of this investigation have led to the stepwise revision of the simplified pathoanatomical and pathophysiological HD concept and culminated in the implementation of the current concept of HD as a multisystem degenerative disease of the human brain. The multisystem character of the neuropathology of HD is emphasized by a brain distribution pattern of neurodegeneration (i) which apart from the striatum includes the cerebral neo‐and allocortex, thalamus, pallidum, brainstem and cerebellum, and which (ii) therefore, shares more similarities with polyglutamine spinocerebellar ataxias than previously thought.
Từ khóa
Tài liệu tham khảo
Alzheimer A, 1911, Über die anatomische Grundlage der Huntington'schen Chorea und der choreatischen Bewegung überhaupt, Neurol Centralblatt, 30, 891
Brodmann K, 1909, Vergleichende Lokalisationslehre der Großhirnrinde
Bruyn GW, 1979, Huntington's chorea: current neuropathological status, Adv Neurol, 23, 83
Vos KJ, 2008, Role of axonal transport in neurodegenerative diseases, Annu Rev Neurosci, 31, 1151
Heinsen H, 1992, The entorhinal region in Huntington's disease: a cytoarchitectonic and quantitative investigation in five cases, Clin Neuropathol, 11, 226
Heinsen H, 1997, Quantitative investigations of neural circuits in Huntington's disease, J Neural Transm, 104, 1139
Huntington G, 1872, On chorea, Med Surg Reporter, 26, 317
Jelgersma G, 1908, Über anatomische Befunde bei Paralyis agitans und bei chronischer Chorea, Neurol Centralblatt, 27, 995
Lange HW, 1981, Quantitative changes of telencephalon, diencephalon, and mesencephalon in Huntington's chorea, postencephalitic, and idiopathic Parkinsonism, Verh Anat Ges, 73, 923
Lange HW, 1986, Die Huntingtonsche Krankheit, 25
Lanska DJ, 2010, Handbook of Clinical Neurology, 501
Leigh RJ, 2006, The Neurology of Eye Movements
Vogt C, 1920, Zur Lehre der Erkrankungen des striären Systems, J Psychol Neurol, 25, 631
Vogt C, 1942, Morphologische Gestaltungen unter normalen und pathogenen Bedingungen. Ein hirnanatomischer Beitrag zu ihrer Kenntnis, J Psychol Neurol, 50, 161