Huntington's disease in children

Byers, Randolph K.; Gilles, Floyd H.; Fung, Christopher

doi:10.1212/wnl.23.6.561

Cited by 90 publications

(43 citation statements)

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“…The nine-year-old patient reported by Markham and Knox had epilepsy, severe cerebellar atrophy, but "no focal atrophy in Sommer's sector" (Markham and Knox 1965). Byers et al reported four juvenile HD cases all with severe cerebellar atrophy (Byers et al 1973). The hippocampal formation was available in three of the four cases; of these three hippocampi, two showed neuronal loss, and reactive gliosis suggesting that to some extent the cerebellar atrophy may have been secondary to remote hypoxic-ischemic events.…”

Section: Cerebellummentioning

confidence: 99%

The Neuropathology of Huntington’s Disease

Waldvogel

Kim

Tippett

et al. 2014

Current Topics in Behavioral Neurosciences

196

138

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The basal ganglia are a highly interconnected set of subcortical nuclei and major atrophy in one or more regions may have major effects on other regions of the brain. Therefore, the striatum which is preferentially degenerated and receives projections from the entire cortex also affects the regions to which it targets, especially the globus pallidus and substantia nigra pars reticulata. Additionally, the cerebral cortex is itself severely affected as are many other regions of the brain, especially in more advanced cases. The cell loss in the basal ganglia and the cerebral cortex is extensive. The most important new findings in Huntington's disease pathology is the highly variable nature of the degeneration in the brain. Most interestingly, this variable pattern of pathology appears to reflect the highly variable symptomatology of cases with Huntington's disease even among cases possessing the same number of CAG repeats.

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Section: Cerebellummentioning

confidence: 99%

The Neuropathology of Huntington’s Disease

Waldvogel

Kim

Tippett

et al. 2014

Current Topics in Behavioral Neurosciences

196

138

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“…Cerebellar inclusions are not typically found in the brains of adult-onset HD patients. However, cerebellar pathology has been reported in juvenile-onset HD cases, which are the most severe forms of the disease, and interestingly, in Hdh140 knock-in mice as early as 4 months of age (14,(27)(28)(29)(30). The abundant inclusions in HD-N171-82Q cerebellar neurons provide a second target for assessing the effects of AAV.shHD2.1 on target protein levels.…”

Section: Aavshhd21 Reduces Hd-n171-82q Expression In Vivomentioning

confidence: 99%

RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model

Harper

Staber

et al. 2005

Proc. Natl. Acad. Sci. U.S.A.

616

474

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Huntington's disease (HD) is a fatal, dominant neurogenetic disorder. HD results from polyglutamine repeat expansion (CAG codon, Q) in exon 1 of HD, conferring a toxic gain of function on the protein huntingtin (htt). Currently, no preventative treatment exists for HD. RNA interference (RNAi) has emerged as a potential therapeutic tool for treating dominant diseases by directly reducing disease gene expression. Here, we show that RNAi directed against mutant human htt reduced htt mRNA and protein expression in cell culture and in HD mouse brain. Importantly, htt gene silencing improved behavioral and neuropathological abnormalities associated with HD. Our data provide support for the further development of RNAi for HD therapy.short hairpin RNAs ͉ triplet repeat diseases ͉ gene therapy ͉ nanomedicine

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“…Many disorders presenting with cerebellar degeneration are members of the continually growing family of neurodegenerative diseases involving excess central nervous system accumulation of metals. These include Friedreich's ataxia, Wilson's disease, Huntington's disease, and aceruloplasminemia [5][6][7][8][9]. Metal deficiency can also lead to neurodegeneration involving the cerebellum, as exemplified by Menkes' disease [10].…”

Section: Introductionmentioning

confidence: 99%

Iron, Copper, and Zinc Distribution of the Cerebellum

et al. 2009

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Synchrotron rapid-scanning X-ray fluorescence (RS-XRF) is employed for the first time to simultaneously map iron, copper, and zinc in the normal cerebellum. The cerebellum is a major repository of metals that are essential to normal function. Therefore, mapping the normal metal distribution is an important first step towards understanding how multiple metals may induce oxidative damage, protein aggregation, and neurotoxicity leading to cerebellar degeneration in a wide range of diseases. We found that cerebellar white and grey matter could be sharply defined based upon the unique metal content of each region. The dentate nucleus was particularly metal-rich with copper localized to the periphery and iron and zinc abundant centrally. We discuss how RS-XRF metal mapping in the normal brain may yield important clues to the mechanisms of degeneration in the dentate nucleus.

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Huntington's disease in children

Cited by 90 publications

References 0 publications

The Neuropathology of Huntington’s Disease

The Neuropathology of Huntington’s Disease

RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model

Iron, Copper, and Zinc Distribution of the Cerebellum

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