Progression markers of Spinocerebellar Ataxia 2. A twenty years neurophysiological follow up study

Velázquez‐Pérez, Luis; Rodríguez‐Labrada, Roberto; Canales-Ochoa, Nalia; Sánchez-Cruz, Gilberto; Fernández-Ruíz, Juan; Montero, Jacqueline Medrano; Aguilera-Rodríguez, Raúl; Dı́az, Rosalinda; Almaguer-Mederos, Luis E.; Truitz, Agustín Palomino

doi:10.1016/j.jns.2009.12.013

Cited by 44 publications

(46 citation statements)

References 26 publications

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“…20,26,27 This is likely due to very recent advances in genetic diagnoses of HSP compared to the common SCAs and highlights the need for good natural history data to identify parameters which influence clinical outcomes of HSP. 28 There is one study which examined the correlation between disease duration and spasticity in patients with HSP, but unfortunately, the genetic diagnoses were not reported. 29 Another study identified the degree of spasticity as being the most important contributing factor for wheelchair dependence.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic study of hereditary spastic paraplegia in Canada

Chrestian¹,

Dupré²,

Gan‐Or

et al. 2017

Neurol Genet

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Objective:To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP.Methods:We conducted a multicenter observational study of patients who met clinical criteria for the diagnosis of HSP in the provinces of Alberta, Ontario, and Quebec from 2012 to 2015. Characteristics of the participants were analyzed using descriptive statistics. The main outcome measure for a subset of the cohort (n = 48) was the Spastic Paraplegia Rating Scale. We also used the SPATAX-EUROSPA disability stage (disability score) to assess disability (n = 65).Results:A total of 526 patients were identified with HSP across the country, and 150 patients had a confirmed genetic diagnosis. Mutations were identified in 15 different genes; the most common were SPAST (SPG4, 48%), ATL1 (SPG3A, 16%), SPG11 (8%), SPG7 (7%), and KIAA0196 (SPG8, 5%). The diagnosis of SPG4 was associated with older age at symptom onset (p = 0.0017). SPG4 and SPG3A were less associated with learning disabilities compared to other subtypes of HSP, and SPG11 was strongly associated with progressive cognitive deficits (odds ratio 87.75, 95% confidence interval 14.04–548.24, p < 0.0001). SPG3A was associated with better functional outcomes compared to other HSP subtypes (p = 0.04) on multivariate analysis. The strongest predictor of significant disability was abnormal brain MRI (p = 0.014).Conclusions:The most important predictors of disability in our HSP cohort were SPG11 mutations and abnormal brain MRI. Accurate molecular characterization of well-phenotyped cohorts and international collaboration are essential to establish the natural history of these rare neurodegenerative disorders.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic study of hereditary spastic paraplegia in Canada

Chrestian¹,

Dupré²,

Gan‐Or

et al. 2017

Neurol Genet

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“…Absence of deep tendon reflexes in lower limbs may be seen in different ataxic disorders, including Friedreich's ataxia, ataxia with vitamin E deficiency, abetalipoproteinemia, Refsum's disease, spinocerebellar ataxia type 2 (SCA2), and Miller-Fisher syndrome [6][7][8].…”

Section: Discussionmentioning

confidence: 99%

Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu

Salsano¹,

Fancellu²,

Fede³

et al. 2011

Journal of the Neurological Sciences

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“…There is a distinct disproportion between studies reporting a visual pathology higher than 50% in SCA2 and the large Holguin population exhibiting only 1% of VEPs pathology; thus, it would be interesting to use the motion onset in addition to the pattern reversal stimulation because almost all of the Cuban patients had slow saccadic eye movements [28]. Such an attempt could contribute to the clarification of the relationship between motion detection and cerebellar pathology and provide additional data to elucidate the reported intergroup differences.…”

Section: Further Researchmentioning

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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Progression markers of Spinocerebellar Ataxia 2. A twenty years neurophysiological follow up study

Cited by 44 publications

References 26 publications

Clinical and genetic study of hereditary spastic paraplegia in Canada

Clinical and genetic study of hereditary spastic paraplegia in Canada

Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu

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

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