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

Shintaku, Masayuki; Kaneda, Daita

doi:10.1111/j.1440-1789.2008.00947.x

Cited by 11 publications

(17 citation statements)

References 14 publications

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“…This study was approved by the Ethics Committees of Shinshu University School of Medicine (approval number #2318). Autopsied brains were taken from two Japanese patients (a 77‐year‐old man and an 81‐year‐old man) with genetically proven SCA31 and from four age‐matched Japanese controls (aged 57–84 years, three male and one female, mean 74.3 years). The clinical and pathological findings of one patient (case 1) were previously reported .…”

Section: Methodsmentioning

confidence: 99%

“…Autopsied brains were taken from two Japanese patients (a 77‐year‐old man and an 81‐year‐old man) with genetically proven SCA31 and from four age‐matched Japanese controls (aged 57–84 years, three male and one female, mean 74.3 years). The clinical and pathological findings of one patient (case 1) were previously reported . His age at onset was approximately 58 years and the total duration of cerebellar ataxia was approximately 19 years.…”

Section: Methodsmentioning

confidence: 99%

“…To date, the neuropathological findings of at least four Japanese SCA31 patients have been reported in the literature . On the basis of the literature, cerebellar Purkinje cells are predominantly involved in SCA31 .…”

Section: Introductionmentioning

confidence: 99%

“…On the basis of the literature, cerebellar Purkinje cells are predominantly involved in SCA31 . They are often surrounded by halo‐like amorphous materials or fuzzy, coat‐like, finely fibrillary materials . Using immunohistochemistry, this unique structure was shown to be positively stained with anti‐calbindin‐D‐28 K (CaBP28K) and anti‐synaptophysin (SYP) antibodies .…”

Section: Introductionmentioning

confidence: 99%

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Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31

et al. 2013

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Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant form of pure cerebellar ataxia that is caused by a disease-specific insertion containing penta-nucleotide repeats (TGGAA)n. Neuropathologically, cerebellar Purkinje cells are preferentially affected and reduced in number in SCA31, and they are often surrounded by halo-like amorphous materials. In the present study, we performed neuropathological analyses on two SCA31 brains, and discussed the serial morphological changes of Purkinje cells in SCA31.We found that bent, elongated, often folded nuclei were observed frequently in degenerating Purkinje cells with the halo-like structure. Conversely, Purkinje cells without this structure developed marked atrophy with severely slender and condensed nuclei. On the basis of these pathological findings, we propose two different processes for Purkinje cell degeneration in SCA31, namely, shrinkage of Purkinje cells with or without the halo-like amorphous materials. The former, but not the latter, was considered to be specific to SCA31. Correspondingly, fragmentation of the Golgi apparatus was observed more frequently in Purkinje cells with the halo-like structure than in those without this structure. We consider that the profound nuclear deformity and fragmentation of the Golgi apparatus are closely linked with the formation of the halo-like structure in SCA31.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31

et al. 2013

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“…In neurological diseases, in general, pruning of the dendritic arbor is a more proximate structural change that may precede frank neuronal death (Ferrer and others 1984). Such pruning is by no means specific to ET, and it has been noted in PCs in other disorders in which there is a loss of PCs, ranging from patients with hereditary ataxias (Shintaku and Kaneda 2009) to chronic alcoholics and patients with Alzheimer’s disease (Ferrer and others 1984; Mavroudis and others 2013). …”

Section: Et As a Disorder Of The Pc: Postmortem Studiesmentioning

confidence: 99%

Essential Tremor

Louis

2015

Neuroscientist

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Essential tremor (ET) is one of the most common neurological diseases, with an estimated 7 million affected individuals in the United States. Postmortem studies in the past few years have resulted in new knowledge as well as a new formulation of disease pathophysiology. This new formulation centers on the notion that ET might be a disease of the cerebellum and, more specifically, the Purkinje cell (PC) population. Indeed, several investigators have proposed that ET may be a “Purkinjopathy.” Supporting this formulation are data from controlled postmortem studies demonstrating (1) a range of morphological changes in the PC axon, (2) abnormalities in the position and orientation of PC bodies, (3) reduction in the number of PCs in some studies, (4) morphological changes in and pruning of the PC dendritic arbor with loss of dendritic spines, and (5) alterations in both the PC-basket cell interface and the PC-climbing fiber interface in ET cases. This new formulation has engendered some controversy and raised additional questions. Whether the constellation of changes observed in ET differs from that seen in other degenerative disorders of the cerebellum remains to be determined, although initial studies suggest the likely presence of a distinct profile of changes in ET.

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Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study

et al. 2016

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Spinocerebellar ataxia type 31 (SCA31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of SCA31 has not been done yet. In this prospective cohort study, we enrolled 44 patients (mean ± standard deviation 73.6 ± 8.5 years) with genetically confirmed SCA31 from 10 ataxia referral centers in the Nagano area, Japan. Patients were evaluated every year for 4 years using the Scale for the Assessment and Rating of Ataxia (SARA) and the Barthel Index (BI). Of the 176 follow-up visits (91.5%), 161 were completed in this study. Five patients (11.4%) died during the follow-up period, and two patients (4.5%) were lost to follow-up. The annual progression of the SARA score was 0.8 ± 0.1 points/year and that of the BI was -2.3 ± 0.4 points/year (mean ± standard error). Shorter disease duration at baseline was associated with faster progression of the SARA score. Our study indicated the averaged clinical course of SCA31 as follows: the patients develop ataxic symptoms at 58.5 ± 10.3 years, become wheelchair bound at 79.4 ± 1.7 years, and died at 88.5 ± 0.7 years. Our prospective dataset provides important information for clinical trials of forthcoming disease-modifying therapies for cerebellar ataxia. It also represents a useful resource for SCA31 patients and their family members in genetic counseling sessions.

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

Cited by 11 publications

References 14 publications

Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31

Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31

Essential Tremor

Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study

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