Radiological characterization of spinocerebellar ataxia type 6

Butteriss, David; Chinnery, Patrick F.; Birchall, Daniel

doi:10.1259/bjr/73834093

Cited by 21 publications

(22 citation statements)

References 13 publications

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“…One previous neuropsychological report of a perceptual timing deficit implicated superior parts of the cerebellum, in particular, the right lateral hemisphere (14). The present study demonstrates a specific deficit in absolute time perception in a group with SCA-6 that experiences stereotyped progression of the cerebellar degeneration from the superior to the inferior parts, especially affecting the vermis (24). Our data are consistent with previous suggestions of a particular role of the superior cerebellum in absolute timing, and suggest a particular importance of the midline cerebellum.…”

Section: Discussionsupporting

confidence: 57%

“…Some inconsistency of the effect in previous studies may reflect the heterogeneity of lesions in these populations of stroke patients (14,15). The current study assessed 34 individuals with a genetically determined, isolated disorder of the cerebellum that advances in a stereotyped way from the superior to the inferior part (24).…”

Section: Discussionmentioning

confidence: 98%

“…SCA-6 is an autosomal-dominant disease caused by a loss-offunction mutation in a voltage-gated calcium channel that specifically affects the Purkinje cells of the cerebellum. Degeneration starts at the superior-anterior end and progresses inferior-posteriorly in a stereotyped manner (24). The matched control group included 40 subjects (18 males) of 45-81 y (mean 64 ± 9 y).…”

Section: Methodsmentioning

confidence: 99%

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Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration

Grube

Cooper

Chinnery

et al. 2010

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

171

183

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This work tests the hypothesis that the cerebellum is critical to the perception of the timing of sensory events. Auditory tasks were used to assess two types of timing in a group of patients with a stereotyped specific degeneration of the cerebellum: the analysis of single time intervals requiring absolute measurements of time, and the holistic analysis of rhythmic patterns based on relative measures of time using an underlying regular beat. The data support a specific role for the cerebellum only in the absolute timing of single subsecond intervals but not in the relative timing of rhythmic sequences with a regular beat. The findings support the existence of a stopwatch-like cerebellar timing mechanism for absolute intervals that is distinct from mechanisms for entrainment with a regular beat.T he relevance of the human cerebellum to the perception of time intervals and rhythmic sequences is controversial. Involvement of the cerebellum in perceptual timing (the perception of the timing of sensory events), in addition to its role in motor timing (the timed execution of movements), has been suggested by a number of studies (1-6). One distinction that we wish to address here, which has not been made clear in previous work, is between the absolute, duration-based timing of single subsecond intervals and the relative timing of subsecond intervals based on a regular beat. Functional imaging studies suggest neural activity in the human cerebellum during the perception of the absolute duration of single time intervals (7,8) as well as rhythmic patterns with a regular beat (9-13). However, previous lesion work to assess an obligatory cerebellar role in the perception of single time intervals has not yielded consistent results (4,(14)(15)(16)(17). Previous lesion work to assess any obligatory role of the cerebellum in the analysis of rhythmic sequences has assessed only deficits in related motor activity, such as tapping out a beat (4,14,18), that do not allow clear inference about perception.In this study, we test whether the cerebellum is a critical substrate for perceptual tasks that require the absolute, durationbased analysis of single time intervals as well as those that require the relative analysis of time intervals within rhythmic patterns based on a regular beat. Perceptual tests were conducted in the auditory domain, where accurate temporal encoding of sensory events is essential and entrainment with a beat is induced naturally. Tasks were administered to a group of 34 patients with a stereotyped cerebellar degeneration and a matched control group of 40 healthy individuals. Two absolute timing tasks tested the perception of single intervals for a variable and a fixed reference duration, respectively ( Fig. 1 A and B). Three relative timing tasks tested the beat-based analysis of rhythmic sequences, including the detection of the presence of a roughly regular beat (19), a deviation from an isochronous beat (20) and a distortion of a rhythmic pattern with a metrical beat (21) (Fig. 1 C-E). The data support a ce...

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Section: Discussionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 98%

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration

Grube

Cooper

Chinnery

et al. 2010

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

171

183

View full text Add to dashboard Cite

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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%

“…[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.…”

mentioning

confidence: 99%

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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Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

Pellerin,

Danzi,

Renaud

et al. 2024

Clinical & Translational Med

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Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75% of such patients remain without a genetic diagnosis. In an era of emerging disease‐modifying gene‐stratified therapies, the identification of causative alleles has become increasingly important. Over the past few years, the implementation of advanced bioinformatics tools and long‐read sequencing has allowed the identification of a number of novel repeat expansion disorders, such as the recently described spinocerebellar ataxia 27B (SCA27B) caused by a (GAA)•(TTC) repeat expansion in intron 1 of the fibroblast growth factor 14 (FGF14) gene. SCA27B is rapidly gaining recognition as one of the most common forms of adult‐onset hereditary ataxia, with several studies showing that it accounts for a substantial number (9–61%) of previously undiagnosed cases from different cohorts. First natural history studies and multiple reports have already outlined the progression and core phenotype of this novel disease, which consists of a late‐onset slowly progressive pan‐cerebellar syndrome that is frequently associated with cerebellar oculomotor signs, such as downbeat nystagmus, and episodic symptoms. Furthermore, preliminary studies in patients with SCA27B have shown promising symptomatic benefits of 4‐aminopyridine, an already marketed drug. This review describes the current knowledge of the genetic and molecular basis, epidemiology, clinical features and prospective treatment strategies in SCA27B.

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Radiological characterization of spinocerebellar ataxia type 6

Cited by 21 publications

References 13 publications

Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration

Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration

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

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

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