Characteristic Magnetic Resonance Imaging Findings in Spinocerebellar Ataxia 6

Murata, Yoshinori; Kawakami, Hideshi; Yamaguchi, Shinya; Nishimura, Masataka; Kohriyama, Tatsuo; Ishizaki, Fumiko; Matsuyama, Zenjiro; Mimori, Yasuyo; Nakamura, Shotaro

doi:10.1001/archneur.55.10.1348

Cited by 75 publications

(44 citation statements)

References 7 publications

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“…Mild pontine atrophy has been reported in a SCA6 patient with homozygocity [22]. Some authors pointed out mild pontine atrophy in heterozygote SCA6 patients [22, 23, 24]. This study clearly shows that heterozygote SCA6 can cause distinct pontine atrophy.…”

Section: Discussionsupporting

confidence: 64%

Pontine Atrophy in Spinocerebellar Ataxia Type 6

Sugawara

Toyoshima²,

Wada³

et al. 2000

Eur Neurol

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To investigate the clinical range of spinocerebellar ataxia type 6 (SCA6), we screened CAG repeat expansion in the voltage-dependent alpha 1A calcium channel gene (CACNL1A4) in 71 ataxic patients in 60 families; 54 patients in 43 families with hereditary ataxia and 17 sporadic patients. Thirteen patients with SCA6 were detected to have elongated CAG in CACNL1A4. Of these, 7 patients had been diagnosed as having hereditary cerebellar cortical atrophy, and 6 patients had been found to have sporadic occurrence. One patient showed distinct pontine atrophy with prominent horizontal or oblique gaze nystagmus which is an unusual feature in sporadic olivopontocerebellar atrophy. For the efficient screening of SCA6, we would propose testing CAG repeat expansion in CACNL1A4, in patients with one of two markers: (1) horizontal or oblique gaze nystagmus without other eye movement disorders, (2) pure cerebellar atrophy, even if occurrence is sporadic. We should note that the pontine atrophy could also be caused by CAG repeat expansion in CACNL1A4.

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Section: Discussionsupporting

confidence: 64%

Pontine Atrophy in Spinocerebellar Ataxia Type 6

Sugawara

Toyoshima²,

Wada³

et al. 2000

Eur Neurol

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“…5,7,8 Although Murata et al 8 found a reduction of the anteroposterior diameter of the pons in patients with SCA6, results failed to show a correlation with CAG repeat length. The relationship between the volume changes and clinical dysfunction was not tested in this study.…”

Section: Discussionmentioning

confidence: 96%

“…8 On one hand, brain stem tissue loss was assessed by different techniques. In the present study, as well as in the study published by Schulz et al, 5 brain stem atrophy was quantified by using 3D MR imaging data.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4][5][6] Particularly, MR imaging has been proved to detect additional extracerebellar involvement in vivo. Several prior MR imaging studies have demonstrated atrophy in SCA6, mainly of the cerebellum, [7][8][9] whereas additional involvement of the cerebral cortex, basal ganglia, pons, and medulla has been identified by using MR imaging in SCA3. 1,4,5,10,11 However, there is increasing evidence of widespread neurodegeneration in SCA6 affecting the brain stem and the primary motor cortex, as shown recently in neuropathologic studies.…”

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confidence: 99%

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Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

Eichler¹,

Bellenberg²,

Hahn³

et al. 2011

AJNR Am J Neuroradiol

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“…Denier et al, 1999, Guida et al, 2001. Occasionally, at MRI, a size reduction of pons as well as of red nucleus and middle cerebellar peduncle has been reported (Murata et al, 1998;Arpa et al, 1999;Nakagawa et al, 1999). A widespread reduction of glucose metabolism at PET scan, with particularly low values in the brainstem and cerebellar hemispheres, was observed in a group of SCA6 patients as compared to normal controls (Soong et al, 2001b).…”

Section: Neuropathologymentioning

confidence: 97%

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

Mantuano

Veneziano²,

Jodice³

et al. 2003

Cytogenet Genome Res

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Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q. SCA6 is associated with small expansions of a CAG repeat at the 3′ end of the gene, while point mutations are responsible for its two allelic disorders (Episodic Ataxia type 2 and Familial Hemiplegic Migraine). Genetic, clinical, pathological and pathophysiological data of SCA6 patients are reviewed and compared to those of other SCAs with expanded CAG repeats as well as to those of its allelic channelopathies, with particular reference to Episodic Ataxia type 2. Overall SCA6 appears to share features with both types of disorders, and the question as to whether it belongs to polyglutamine disorders or to channelopathies remains unanswered at present.

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Characteristic Magnetic Resonance Imaging Findings in Spinocerebellar Ataxia 6

Abstract: The cerebellum and its afferent and efferent systems were affected in patients with SCA6. These results seem to distinguish the MRI findings of SCA6 from those of other forms of spinocerebellar ataxia.

Cited by 75 publications

References 7 publications

Pontine Atrophy in Spinocerebellar Ataxia Type 6

Pontine Atrophy in Spinocerebellar Ataxia Type 6

Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

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