The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3

Abstract

Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited form of ataxia that leads to progressive neurodegeneration. The initial symptoms could affect clinical phenotypes in neurodegenerative diseases, such as Parkinson's disease and amyotrophic lateral sclerosis. However, the contribution of initial symptoms to the phenotypes of SCA3 has been scarcely investigated. Methods In the present study, 143 SCA3 patients from China were recruited and divided into two groups of gait‐onset and non‐gait‐onset. For determining the influences of initial symptoms on age at onset (AAO), the severity and progression of ataxia, and the possible factors affecting the initial symptoms, multivariable linear regression, and multivariate logistic regression were performed. Results We found that the frequency of gait‐onset was 87.41%, and the frequency of non‐gait‐onset was 12.59% (diplopia: 7.69%, dysarthria: 4.20%, dystonia: 0.70%). Compared to the non‐gait‐onset group, the gait‐onset group had significantly more severe ataxia ( p = 0.046), while the initial symptoms had no effect on AAO ( p = 0.109) and progression of ataxia ( p = 0.265). We failed to find the existence of any factors affecting initial symptoms. Conclusion These findings collectively suggested that initial symptoms influenced phenotypes in SCA3 and that neurodegeneration in different parts of brain may induce different disease severity in SCA3.

Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study

“…In SCA3, the strongest predictor of conversion to ataxia was double vision, which is a frequent complaint of patients with SCA3 and might precede gait difficulties. 16,31 We used quantitative measures that can be divided into neurological (SARA, SCAFI, CCFS, and INAS) and patient-reported (PSQI, PHQ-9, EQ-5D) outcome measures. In SCA1, SCA2, and SCA3, SARA and INAS deteriorated in mutation carriers, but not in non-carriers.…”

Spinocerebellar ataxia type 3 with dopamine-responsive dystonia: A case report

“…It is characterized by progressive cerebellar ataxia accompanied by paralysis of extraocular muscles, dysphagia, lingual fibrillation, pyramidal tract signs, extrapyramidal system signs, and other clinical manifestations. However, it rarely presents with symptoms of Parkinson's disease and peripheral nerve lesions and is even less common in patients sensitive to levodopa[ 2 - 5 ]. This phenotype has been described in cases in Singapore, but further evidence on this phenotype is needed[ 6 ].…”

Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients

“…6 Postural instability and gait ataxia are the most frequent initial clinical symptoms in SCA3 patients. 7,8 Postural and balance instability are commonly regarded as contributing factors to ambulatory dysfunction and risk of falls. 9 Semiquantitative scales including the International Cooperative Ataxia Rating Scale (ICARS) and the Scale for the Assessment and Rating of Ataxia (SARA) are most commonly used to assess balance in a clinical setting.…”