Human NCL Neuropathology
نویسندگان
چکیده
منابع مشابه
Neuropathology in Mice Expressing Human a-Synuclein
The presynaptic protein a-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson’s disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer’s disease. a-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the a-synuclein gene are genetically linked to rare familial fo...
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Dementia in children or young adults is most frequently caused by neuronal ceroidlipofuscinoses (NCL), a group of incurable lysosomal storage disorders linked by the accumulation of a characteristic intracellular storage material and progressive clinical deterioration, usually in combination with visual loss, epilepsy, and motor decline. The clinical characteristics can vary and the age at dise...
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The meticulous clinico-pathological studies undertaken by the Glasgow School of Neuropathology have indicated that various processes may prove lethal or be associated with severe disability and yet it has been difficult to define those processes in life. Examples include cerebral ischaemia, cholinergic dysfunction and the different patterns of neuropathological damage associated with the vegeta...
متن کاملParkinsonism--neuropathology.
for willed movements only, but subsequently also for following movements and the upward movement of the eyeballs which occurs on closing the lids. At a later stage, lateral conjugate gaze is also affected, the loss again first involving voluntary movements and at a later stage reflexly induced or following movements. Tremor is not a feature of this condition, which is unlikely to be missed if o...
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Neuropathology is an important tool for definitive diagnosis of sporadic, genetic, and acquired prion disease. Classical neuropathological hallmark is the highly disease-specific spongiform change accompanied by neuronal loss, astro- and microgliosis. Spongiform change of the neuropil consists of either microcystic or confluent vacuoles and varies greatly within the same brain. In addition, the...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2015
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2015.05.007