Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2

Pérez, Luís Velázquez; Cruz, Gilberto Sánchez; Ochoa, Nalia Canales; Labrada, Roberto Rodríguez; Díaz, Julio Rodríguez; Mederos, Luis Almaguer; Mesa, J Laffita

doi:10.1016/j.jns.2007.07.013

Cited by 53 publications

(44 citation statements)

References 32 publications

(46 reference statements)

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“…Other symptoms are also present, such as severe saccade slowing [3], peripheral neuropathy [4], cognitive dysfunctions [5], and sleep disorders [6,7].…”

Section: Introductionmentioning

confidence: 99%

“…Different electrophysiological abnormalities in SCA2 patients have been characterized. The most consistent feature is an amplitude reduction of sensory potentials resulting from the loss of ganglion cells in the dorsal root ganglia [4,[18][19][20]. However, the progression of these alterations across time has not been studied in a definite sample of SCA2 patients.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Velázquez‐Pérez¹,

Rodríguez‐Labrada²,

Canales-Ochoa³

et al. 2010

Journal of the Neurological Sciences

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“…Other symptoms are also present, such as severe saccade slowing [3], peripheral neuropathy [4], cognitive dysfunctions [5], and sleep disorders [6,7].…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Velázquez‐Pérez¹,

Rodríguez‐Labrada²,

Canales-Ochoa³

et al. 2010

Journal of the Neurological Sciences

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“…These abnormalities are accentuated in patients with an advanced disease so that many cases lost the SSEPs and/or BSAEPs components. Additionally, these subjects show prolongation of P100 latency of visual evoked potentials [74]. Event-related evoked potentials revealed the prolongation of P300 latencies in 40% of cases with a significant correlation of this variable with the disease duration and clinical affectation [76].…”

Section: Nerve Conduction and Multimodal-evoked Potentialsmentioning

confidence: 83%

“…Peripheral nerve involvement and altered evoked potentials are usual features of SCA2 patients since preclinical stage [74]. Sensory nerve conduction studies consistently yield sensory axonal neuropathy with reduced or absent sensory nerve action potentials.…”

Section: Nerve Conduction and Multimodal-evoked Potentialsmentioning

confidence: 99%

A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba

et al. 2011

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Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia characterized by a progressive cerebellar syndrome associated to saccadic slowing, peripheral neuropathy, cognitive disorders, and other multisystem features. SCA2 is caused by the abnormal expansion of cytosine-adenine-guanine triplet repeats in the encoding region of the ATXN2 gene and therefore the expression of toxic polyglutamine expansions in the ataxin 2 protein, which cause progressive neuronal death of Purkinje cells in the cerebellum and several pontine, mesencephalic, and thalamic neurons among other cells. Worldwide, SCA2 is the second most frequent type of spinocerebellar ataxia, only surpassed by SCA3. Nevertheless, in Holguin, Cuba, the disease reaches the highest prevalence, resulting from a putative foundational effect. This review discusses the most important advances in the genotypical and phenotypical studies of SCA2, highlighting the comprehensive characterization reached in Cuba through clinical, neuroepidemiological, neurochemical, and neurophysiological evaluation of SCA2 patients and presymptomatic subjects, which has allowed the identification of new disease biomarkers and therapeutical opportunities. These findings provide guidelines, from a Cuban viewpoint, for the clinical management of the disease, its diagnosis, genetic counseling, and therapeutical options through rehabilitative therapy and/or pharmacological options.

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“…This alteration is followed by the reduction of REM sleep percentage with decreased rapid eyes movements' density, which may precede the ataxia onset by 10 years although its progression during this stage is insidious . Other preclinical alterations include decrease of sensory amplitudes (Velázquez-Pérez et al, 2010), increased P40 latency (Velázquez-Pérez et al, 2007), motor performance deficits, shown by the prism adaptation task (Velázquez-Pérez et al, 2009d) and reduced capabilities to identify specific odors in a sensible smell identification test (UPSIT). The comprehensive analysis of these early signs in SCA2 suggests the necessity for revisit the current criteria to define the disease onset delineating the boundaries between presymptomatics and symptomatic states.…”

Section: Early Preclinical Signsmentioning

confidence: 99%