Clinical analysis of adult-onset spinocerebellar ataxias in Thailand

Boonkongchuen, Pairoj; Pongpakdee, Sunsanee; Jindahra, Panitha; Papsing, Chutima; Peerapatmongkol, Powpong; Wetchaphanphesat, Suppachok; Paiboonpol, Supachai; Dejthevaporn, Charungthai; Tanprawate, Surat; Nudsasarn, Angkana; Jariengprasert, Chanchai; Muntham, Dittapol; Ingsathit, Atiporn; Pulkes, Teeratorn

doi:10.1186/1471-2377-14-75

Cited by 21 publications

(20 citation statements)

References 48 publications

(54 reference statements)

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“…The prevalence was even greater than that reported in other Asian countries, such as Thailand and India (Boonkongchuen et al, 2014;Radhakrishnan et al, 2018). An intermediate number of CAG repeats were recognized as a risk factor for the clinical manifestation of parkinsonism in SCA2 and SCA3 (van Gaalen et al, 2011;Park et al, 2015;Subramony et al, 2002).…”

Section: Ta B L E 2 Comparison Of Symptomatic Sca Patients With and Wmentioning

confidence: 63%

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

et al. 2019

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Background Spinocerebellar ataxia (SCA) presents with variable clinical presentations in addition to ataxia. The aim of this study was to reappraise the diverse nonataxic clinical characteristics of the five most common SCA subtypes in the Asian population. Methods The clinical presentations of 90 patients with genetically confirmed SCA1, SCA2, SCA3, SCA6, or SCA17 were assessed retrospectively between November 2008 and September 2018 at a tertiary referral center in Taiwan. Results Parkinsonism was the most common nonataxic phenotype (21.1%), with a greater prevalence than Caucasian and other Asian SCA carriers. Patients with parkinsonism feature had fewer CAG repeats in SCA2 (31.0 ± 4.5 vs. 36.9 ± 6.0, p = .03) and SCA3 (65.6 ± 7.9 vs. 70.0 ± 4.2, p = .02) compared to those with pure ataxia presentation. The average age of symptom onset was significantly higher in the parkinsonism group of SCA2 (51.5 ± 8.9 vs. 35.3 ± 12.6 years, p = .007) than those with pure ataxia. Focal or segmental dystonia was identified in 4.4% of SCA patients (n = 2 each SCA2 and SCA3). Nonmotor symptoms, including impaired cognition (6.1% of SCA2 and 8.3% of SCA3 patients) and depression (9.1% of SCA2 and 8.3% of SCA3 patients), were also common nonataxic features in our SCA patients. Conclusions Parkinsonism, dystonia, and cognitive‐psychiatric symptoms are common features in patients with SCA mutations in our population. Our study identifies a different clinical spectrum of SCA1, SCA2, SCA3, SCA6, and SCA17 compared to Caucasians.

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Section: Ta B L E 2 Comparison Of Symptomatic Sca Patients With and Wmentioning

confidence: 63%

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

et al. 2019

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“…13-15 Features suggestive of pyramidal tract dysfunction, mainly hyperreflexia, have been documented in preclinical SCA1, SCA3, and SCA7 carriers as well. [16][17][18][19] Unsustained gaze-evoked nystagmus, occasional unsteadiness, and tremor can be considered early signs at neurologic examination in SCA1. 16 Subtle motor performance deficits were present subclinically at baseline in a prism adaptation task even more than 5 years prior to symptom onset in the course of SCA2 and correlated well with the estimated time to manifestation.…”

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confidence: 99%

The preclinical stage of spinocerebellar ataxias

et al. 2015

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The autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of degenerative diseases of the cerebellum and connected regions. The discovery of various SCA genes and the subsequent possibility of predictive testing currently allow a genetic diagnosis to be established years or even decades before the actual appearance of ataxia symptoms. A growing body of evidence, however, indicates that this preclinical stage is subject to the earliest pathophysiologic changes. This review article comprehensively summarizes the studies conducted in preclinical carriers of a mutation in one of the SCA genes. From these data, it can indeed be concluded that the preclinical phase in SCA is already characterized by detectable central and peripheral nervous system changes, which are reflected by subtle abnormalities during a careful clinical examination, changes in structural and functional brain imaging, abnormal neurophysiologic measurements, and/or altered motor learning paradigms. As these may be compensated for a long time, ataxia symptoms probably only appear after a certain threshold of dysfunction or degeneration has been exceeded. Detailed knowledge of this disease stage is of particular relevance for a better understanding of the pathogenesis of SCAs, will allow us to determine the optimal point in time for interventions in future therapeutic trials, and points to objective, valid biomarkers to assess disease progression. Further studies will benefit from a consensus-based definition of the preclinical stage, from using one and the same validated ataxia rating scale with one fixed cutoff value, and from applying similar mathematical models to calculate time to predicted disease onset.

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“…MJD (SCA3) was found in 11 patients from 6 of the 13 families with SCA, giving a frequency of 46% among SCA patients in the present study with limited patient recruitment. The apparent lower prevalence of MJD compared with SCA1 in Buriram is different from that in the general Thai population, in which MJD is the most common SCA, similar to the prevalence in other East Asian countries, except Korea in which SCA2 appears to be the most common SCA [18,25]. Moreover, no patients had SCA2 or SCA6.…”

Section: Discussionmentioning

confidence: 49%

“…Pathological nystagmus is frequently oculomotor alteration of patients with MJD in a region of Brazil [28]. In this study, ophthalmoparesis, such as upward gaze paresis and horizontal nystagmus, was significantly more common in MJD than in other SCAs [18]. The clinical features of eye movement abnormalities that are different between MJD and SCA1 among studied families may be caused by factors of sharing some common ancestor and having similar other influential genetic background compared with those in the previous large study in Thailand, in which only patients with index cases from different families were recruited [18].…”

Section: Discussionmentioning

confidence: 59%

“…In Thailand, MJD is the most common SCA type, followed by SCA1, SCA2, SCA6, and SCA17 [16,17], by contrast with SCA7 and DRPLA, which are rare. Among Thai patients, MJD, SCA1, SCA2, and SCA6 mostly present a similar nonataxic phenotype with pyramidal features, predominantly in the lower limbs, and saccadic abnormalities, while peripheral neuropathy is less often presented [18].…”

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confidence: 99%

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Epidemiological, clinical, and genotype characterization of spinocerebellar ataxia type in families in Buriram province, northeast Thailand

et al. 2017

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Background In Thais, the most prevalent type of spinocerebellar ataxia (SCA) is type 3, most commonly known as Machado–Joseph disease (MJD), followed by SCA type 1 (SCA1), SCA2, and SCA6. Objectives To describe the epidemiological, clinical, and genotypic features of SCA in northeastern Thailand and to study 2 associations: between syndromic features and the genotype of SCA, and between health determinants and scores on the scale for the assessment and rating of ataxia (SARA). Methods We conducted a cross-sectional study of 24 patients with autosomal dominant SCA from 13 families recruited from Buriram province in northeast Thailand between December 2009 and January 2014. Patients provided a clinical history and were examined by a neurologist. DNA was extracted from the peripheral blood of each patient. We analyzed associations between the type of SCA and sex, age, family history, clinical features, any underlying disease, age at onset, body weight, smoking status, family history, alcohol consumption, head injury history, and SARA. Results Seven of the families were positive for SCA1 and 6 for MJD. There were 24 index patients from these autosomal dominant SCA families, including 13 with SCA1 and 11 with MJD. Their average age was 43.7 years (range 20–72 years), whereas their average age at disease onset was 36.9 years (range 18–59 years). Pyramidal signs between MJD and SCA1 were not significantly different. Extrapyramidal features appeared uncommon. Horizontal nystagmus and upward gaze paresis were significantly associated with MJD. There were no significant differences in demographic data between the groups with SARA scores ≥15 or <15. Conclusions MJD and SCA1 were the 2 adult-onset cerebellar degenerative diseases found in Buriram province. Clinical clues for differentiating between them were upward gaze paresis and horizontal nystagmus, which were significantly more common in MJD.

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Clinical analysis of adult-onset spinocerebellar ataxias in Thailand

Cited by 21 publications

References 48 publications

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

The preclinical stage of spinocerebellar ataxias

Epidemiological, clinical, and genotype characterization of spinocerebellar ataxia type in families in Buriram province, northeast Thailand

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