Degeneration of the cerebellar system in X‐chromosome—linked copper malabsorption

Iwata, Makoto; Hirano, Atsushi; French, Joseph H.

doi:10.1002/ana.410050609

Cited by 43 publications

(13 citation statements)

References 26 publications

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“…In particular, the nodular zone, and especially lobule X, is resistant to the insult and shows limited cell loss. Sparing of cell loss within the NZ has also been described in other diseases, including X-chromosome-linked copper malabsorption (Iwata et al, 1979), multiple systems atrophy (Kume et al, 1991;Wenning et al, 1996), and spinocerebellar ataxia 6 (Yang et al, 2000). This resistance may not be due to the zebrin II-immunoreactive phenotype.…”

Section: Discussionmentioning

confidence: 91%

Patterned Purkinje cell degeneration in mouse models of Niemann‐Pick type C disease

Sarna

Larouche

Marzban

et al. 2003

J of Comparative Neurology

190

153

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Niemann Pick disease type C1 (NPC1) is an inherited, autosomal recessive, lipid-storage disorder with major neurological involvement. Purkinje cell death is a prominent feature of the neuropathology of NPC. We have investigated Purkinje cell death in two murine models of NPC1, BALB/c npc(nih) and C57BLKS/J spm. In both cases, extensive Purkinje cell death was found in the cerebellum. The pattern of Purkinje cell death is complex. First, zebrin II-negative Purkinje cells disappear, to leave survivors aligned in stripes that closely resemble the pattern revealed by using zebrin II immunocytochemistry. Subsequently, as the disease progresses, additional Purkinje cells die. At the terminal stages of the disease, the surviving Purkinje cells are concentrated in lobules IX and X of the posterior lobe vermis. Purkinje cell degeneration is accompanied by the ectopic expression of tyrosine hydroxylase and the small heat shock protein HSP25, both associated preferentially with the surviving cells. The pattern of cell death thus reflects the fundamental compartmentation of the cerebellum into zones and stripes.

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Section: Discussionmentioning

confidence: 91%

Patterned Purkinje cell degeneration in mouse models of Niemann‐Pick type C disease

Sarna

Larouche

Marzban

et al. 2003

J of Comparative Neurology

190

153

View full text Add to dashboard Cite

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“…In humans, up to 50 axon collaterals from neighboring basket cells descend from the molecular layer and combine to form a complex basket structure around the PC soma, to which the basket cells’ entire axonal output is devoted (44). Reductions in cerebellar basket cell axonal plexuses have been reported in several disease states, including hypothyroidism (44), ataxia telangiectasia (45), and Menkes kinky hair disease (46). Preservation of basket cell plexuses in the setting of PC death (i.e.…”

Section: Discussionmentioning

confidence: 99%

"Hairy Baskets” Associated With Degenerative Purkinje Cell Changes in Essential Tremor

Erickson‐Davis

Faust

Vonsattel

et al. 2010

J Neuropathol Exp Neurol

140

131

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Essential tremor (ET) is one of the most common neurological diseases. Increased numbers of torpedoes and Purkinje cell loss have been documented in the brains of patients with ET. We recently observed a dense and tangled appearance (“hairiness”) of the basket cell axonal plexuses that surround Purkinje cell soma in Bielschowsky preparations of cerebellar cortex in ET brains. Here, we assessed basket cell “hairiness” in 37 ET (32 cerebellar ET; 5 Lewy body variant ET [LBVET]), 21 non-disease control, and 48 disease control brains using a semiquantitative scale. In 8 cerebellar ET cases (25%) there were high basket scores (rating = 3), whereas no LBVET, 1 non-disease control (4.8%) and 2 diseased controls (4.2%) had high basket scores (p = 0.001). The hairy basket scores correlated with numbers of torpedoes (p < 0.001) and inversely with numbers of Purkinje cells (p = 0.06). Axonal plexus density obtained by image analysis of basket cell processes traced from digitized images was higher in ET than in non-diseased control cases (p = 0.016). Closely spaced sites of synaptic contact between basket cell processes and Purkinje cells were identified by electron microscopy in ET cases. These data indicate that structural changes are not restricted to Purkinje cells in ET and that other neurons within their functional network may be involved in its pathogenesis.

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“…Pathological alterations of basket cells and their neurites in various disorders remain largely unknown 9 . In some disorders such as Menkes kinky hair disease, 10 ataxia telangiectasia, 11 and Lesch‐Nyhan disease, 12 disappearance or decrease of basket cells or fibers has been described. Alternatively, Yokoo et al.…”

Section: Discussionmentioning

confidence: 99%

Chromosome 16q22.1‐linked autosomal dominant cerebellar ataxia: An autopsy case report with some new observations on cerebellar pathology

Shintaku¹,

Kaneda

2009

Neuropathology

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An autopsy case of chromosome 16q22.1-linked autosomal dominant cerebellar ataxia is reported. The patient was a 77-year-old man who died after a clinical course of about 19 years characterized by pure cerebellar ataxia. Main neuropathological findings included moderate loss of Purkinje cells, variegated degenerative features of the remaining Purkinje cells, finely fibrillary material surrounding the perikarya of Purkinje cells, and ubiquitin-immunoreactive small dots in the molecular layer and cerebellar white matter. Neuritic hyperplasia surrounding the perikarya of Purkinje cells was also a prominent finding. Golgi impregnation study demonstrated poor dendritic arborization of some Purkinje cells. It is our assumption that the pathological processes leading to Purkinje cell death in this disorder are not singular because the intracellular functions of the protein coded by the mutant gene are manifold, and the multiplicity of the pathological processes is reflected in diverse cytomorphological changes seen in degenerating Purkinje cells.

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Degeneration of the cerebellar system in X‐chromosome—linked copper malabsorption

Cited by 43 publications

References 26 publications

Patterned Purkinje cell degeneration in mouse models of Niemann‐Pick type C disease

Patterned Purkinje cell degeneration in mouse models of Niemann‐Pick type C disease

"Hairy Baskets” Associated With Degenerative Purkinje Cell Changes in Essential Tremor

Chromosome 16q22.1‐linked autosomal dominant cerebellar ataxia: An autopsy case report with some new observations on cerebellar pathology

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