Huntington's disease like-2 neuropathology.

Huntington's disease like-2 neuropathology. Research Abstract Details 

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Huntington's disease like-2 neuropathology. Abstract Text:

Penny E Greenstein,Jean-Paul G Vonsattel,Russell L Margolis,Jeffrey T Joseph,

Huntington's disease like-2 (HDL-2) neurodegeneration is a recently described autosomal dominant disorder with features similar to Huntington's disease (HD). Only one case report has described neuropathology from an affected patient. We describe the clinical presentation and illustrate the pathology in two additional molecularly confirmed patients, compare these with the previously published case, and contrast them with HD. We examined two patients with HDL-2. Their charts were reviewed, their brains were examined using standard neuropathology techniques, including immunoperoxidase stains, and their diagnoses were confirmed with a PCR-based assay for repeat length. The first patient presented with obsessive suspiciousness, while the second had depression and decreased visual acuity. Both patients developed increased tone and cogwheel rigidity, but neither developed choreoathetosis. Extensive degeneration affected the caudate nucleus and putamen, especially dorsally and laterally. In addition, the first patient showed lateral temporal, lateral frontal, and orbitofrontal cortical atrophy, while the second patient displayed marked degeneration in the occipital and parietal cortices. Neither patient showed significant changes in the cerebellum or brainstem. Both cases had ubiquitin-immunoreactive neuronal intranuclear inclusions (NII). The patients with of HDL-2 reviewed here were remarkable for significant frontal inhibition with parkinsonism, a lack of choreiform movements, and African ancestry. Pathologically, HDL-2 is similar to HD in its effect on the neostriatum but may differ, at least in some cases, in its degree of focal cortical involvement, including the occipital lobe.

Huntington's disease like-2 neuropathology. Publishing Authors By Initials

PE Greenstein,JP Vonsattel,RL Margolis,JT Joseph,

For similar genetic processes: mutagenesis: dna repeat expansion: trinucleotide repeat expansion research abstracts see: genetic processes: mutagenesis: dna repeat expansion: trinucleotide repeat expansion research

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Huntington's disease like-2 neuropathology. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Movement disorders : official journal of the Movem

VOLUME: 22

Page Numbers: 1416-23

Journal Abbreviation: Mov. Disord.

ISSN: 0885-3185

DAY: 30

MONTH: Jul

YEAR: 2007

Huntington's disease like-2 neuropathology. Information

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LANGUAGE: eng

NlmUniqueID: 8610688

Huntington's disease like-2 neuropathology. Keywords Mesh Terms:

KEYWORDS: Trinucleotide Repeat Expansion

MESH TERMS: genetics

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Grant and Affiliation Information for Huntington's disease like-2 neuropathology.

AFFILIATION: Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

Country: United States

AGENCY: United States NINDS

GRANT: NS16375

ACRONYM: NS

MEDLINETA: Mov Disord

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