Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients

Perretti, A.; Santoro, Lucio; Lanzillo, B.; Filla, Alessandro; Michele, G. De; Barbieri, F; Martino, Gianvito; Ragno, Michele; Cocozza, Sérgio; Caruso, Giuseppe

doi:10.1016/0022-510x(96)00140-2

Cited by 46 publications

(28 citation statements)

References 41 publications

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“…In our SCA2 patients, by contrast, clinical signs of peripheral neuropathy were more frequently observed, as already noted by Perretti et al 18 Filla et al 9 reported peripheral neuropathies in one third of their patients, with disease duration ranging from 1 year to 18 years. Motor and sensory conduction velocities of their patients were reportedly abnormal in 5 of 6 cases, but details were not provided.…”

Section: Discussionsupporting

confidence: 62%

Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype-genotype correlation

et al. 1999

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Section: Discussionsupporting

confidence: 62%

Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype-genotype correlation

et al. 1999

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“…Perreti et al [4] found that 80% of patients had pathological findings, but this was in a group of only five patients. Quite the opposite finding was that just one subject with prolonged P100 peak was observed among 82 patients [7].…”

Section: Relationship To Other Studiesmentioning

confidence: 99%

“…Currently, we found five reports concerning VEPs in SCA2. Perreti et al [4] examined 11 SCA2 patients, out of which only in five did they record VEPs and four of them deviated in amplitude or latency from the normal values (80%). In another group of 11 SCA2 patients, Abele et al [5] reported abnormal VEPs in four patients and in one patient in which the response was absent (55%).…”

Section: Introductionmentioning

confidence: 99%

An Electrophysiological Study of Visual Processing in Spinocerebellar Ataxia Type 2 (SCA2)

et al. 2010

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Reports of visual functional impairment in spinocerebellar ataxia type 2 (SCA2) have been studied previously using pattern reversal visually evoked potentials (VEPs) with contradictory results. To provide additional evidence to this area, visual functions were studied using VEPs and event-related potentials (ERPs) in a group of ten patients with genetically verified SCA2. The electrophysiological examination included pattern reversal and motion-onset VEPs as well as visually driven oddball ERPs with an evaluation of a target and a pre-attentive response. In six patients, we found abnormal visual/cognitive processing that differed from normal values in latency, but not in the amplitude of the dominant VEP/ERP peaks. Among the VEPs/ERPs used, the motion-onset VEPs exhibited the highest sensitivity and showed a strong Spearman correlation to SCA2 duration (from r = 0.82 to r = 0.90, p < 0.001) and clinical state assessed by Brief Ataxia Rating Scale (from r = 0.71 (p = 0.022) to r = 0.80 (p < 0.001)). None of the VEP/ERP latencies showed a correlation to the triplet repeats of the SCA2 gene. In three patients, we did not find any visual/cognitive pathology, and one subject showed only a single subtle prolongation of the VEP peak. The observed visual/cognitive deficit was related to the subjects' clinical state and the illness duration, but no relationship to the genetic marker of SCA2 was found. From the VEP/ERP types used, the motion-onset VEPs seems to be the most promising candidate for clinical state monitoring rather than a tool for early diagnostic use.

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“…Sensory action potential amplitude of sural nerve correlated with disease duration and disease severity as measured by the International Cooperative Ataxia Rating Scale (ICARS) scores,60 and presence of neuropathy was associated with early onset and more severe ataxia at the SARA58 without effect of CAG repeats. Motor‐evoked potentials showed a prolonged central conduction time more marked at lower limbs 57. The cortical silent period is prolonged 61.…”

Section: Neurophysiologymentioning

confidence: 97%

“…The peripheral neuropathy is usually sensory‐motor and of axonal type, with sensory potential amplitude more severely affected than the amplitude of motor potentials 57, 58. Evidence of neuronopathy has been pointed out in a very small group of patients 59.…”

Section: Neurophysiologymentioning

confidence: 99%

The Multiple Faces of Spinocerebellar Ataxia type 2

Antenora

Rinaldi

Roca

et al. 2017

Ann Clin Transl Neurol

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Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of the mutant protein, ataxin‐2, in intracellular inclusions. The clinical picture is mainly dominated by cerebellar ataxia, although a number of other neurological signs have been described, ranging from parkinsonism to motor neuron involvement, making the diagnosis frequently challenging for neurologists, particularly when information about the family history is not available. Although the functions of ataxin‐2 have not been completely elucidated, the protein is involved in mRNA processing and control of translation. Recently, it has also been shown that the size of the CAG repeat in normal alleles represents a risk factor for ALS, suggesting that ataxin‐2 plays a fundamental role in maintenance of neuronal homeostasis.

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Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients

Cited by 46 publications

References 41 publications

Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype-genotype correlation

Polyneuropathy in autosomal dominant cerebellar ataxias: Phenotype-genotype correlation

An Electrophysiological Study of Visual Processing in Spinocerebellar Ataxia Type 2 (SCA2)

The Multiple Faces of Spinocerebellar Ataxia type 2

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