Parkinsonism and Related Disorders 21 (2015) 821e822
Contents lists available at ScienceDirect
Parkinsonism and Related Disorders journal homepage: www.elsevier.com/locate/parkreldis
Letter to the Editor
Fatigue is frequent and severe in spinocerebellar ataxia type 1
Keywords: Spinocerebellar ataxia type 1 Fatigue Depression Sleep disorders
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion within the coding region of the ATXN1 gene localized at 6p22-p23. The disease is characterized by progressive cerebellar ataxia, dysarthria and dysphagia. Non-motor symptoms have been described in several neurodegenerative diseases but a systematic evaluation of this clinical feature is lacking in SCA1. In particular, there are no data about fatigue in the disease. Therefore, the objective of this study is to evaluate its frequency and severity in SCA1. We have thus evaluated 12 consecutive adult patients regularly followed at UNICAMP hospital and 15 healthy age-and-sex matched controls. All patients had molecular confirmation of SCA1. This protocol was approved by our institution Research Ethics Committee and a written informed consent was obtained from all participants. Each subject answered Brazilian Portuguese-validated questionnaires: Beck Depression Inventory (BDI), Epworth Sleepiness Scale (ESS) and Modified Fatigue Impact Scale (MFIS), which is divided into physical (MFIS-P), cognitive (MFIS-C) and psychosocial components (MFIS-S). ESS, MFIS and BDI scores were considered abnormal if 10, 38 and 11, respectively. Scale for the Assessment and Rating of Ataxia (SARA) was used to determine ataxia severity [1e4]. We used ManneWhitney and Fisher exact tests to compare mean scores and proportions between groups and the Pearson Table 1 Clinical data of patients with spinocerebellar ataxia type 1 and controls.
Age (mean ± SD,years) Gender (M:F) Age at onset Time of disease CAG repeat length (mean ± SD) ESS score (mean ± SD) MFIS score (mean ± SD) MFIS-P score (mean ± SD) MFIS-C score (mean ± SD) MFIS-F score (mean ± SD) BDI score (mean ± SD)
SCA1 (n ¼ 12)
Controls (n ¼ 15)
p Values
48.5 ± 8.9 9:3 36.4 ± 10.5 12.1 ± 8.6 44.3 ± 3.3 9.7 ± 5.7 41.8 ± 19.4 4.9 ± 2.7 16.2 ± 9.6 20.9 ± 9.3 19.3 ± 12
48.1 ± 10.2 9:6 e e e 4.6 ± 3.9 6.8 ± 8.9 0.4 ± 0.9 3.4 ± 4.3 2.9 ± 4.1 2.0 ± 2.8
0.904 0.683 e e e 0.016
Contents lists available at ScienceDirect
Parkinsonism and Related Disorders journal homepage: www.elsevier.com/locate/parkreldis
Letter to the Editor
Fatigue is frequent and severe in spinocerebellar ataxia type 1
Keywords: Spinocerebellar ataxia type 1 Fatigue Depression Sleep disorders
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion within the coding region of the ATXN1 gene localized at 6p22-p23. The disease is characterized by progressive cerebellar ataxia, dysarthria and dysphagia. Non-motor symptoms have been described in several neurodegenerative diseases but a systematic evaluation of this clinical feature is lacking in SCA1. In particular, there are no data about fatigue in the disease. Therefore, the objective of this study is to evaluate its frequency and severity in SCA1. We have thus evaluated 12 consecutive adult patients regularly followed at UNICAMP hospital and 15 healthy age-and-sex matched controls. All patients had molecular confirmation of SCA1. This protocol was approved by our institution Research Ethics Committee and a written informed consent was obtained from all participants. Each subject answered Brazilian Portuguese-validated questionnaires: Beck Depression Inventory (BDI), Epworth Sleepiness Scale (ESS) and Modified Fatigue Impact Scale (MFIS), which is divided into physical (MFIS-P), cognitive (MFIS-C) and psychosocial components (MFIS-S). ESS, MFIS and BDI scores were considered abnormal if 10, 38 and 11, respectively. Scale for the Assessment and Rating of Ataxia (SARA) was used to determine ataxia severity [1e4]. We used ManneWhitney and Fisher exact tests to compare mean scores and proportions between groups and the Pearson Table 1 Clinical data of patients with spinocerebellar ataxia type 1 and controls.
Age (mean ± SD,years) Gender (M:F) Age at onset Time of disease CAG repeat length (mean ± SD) ESS score (mean ± SD) MFIS score (mean ± SD) MFIS-P score (mean ± SD) MFIS-C score (mean ± SD) MFIS-F score (mean ± SD) BDI score (mean ± SD)
SCA1 (n ¼ 12)
Controls (n ¼ 15)
p Values
48.5 ± 8.9 9:3 36.4 ± 10.5 12.1 ± 8.6 44.3 ± 3.3 9.7 ± 5.7 41.8 ± 19.4 4.9 ± 2.7 16.2 ± 9.6 20.9 ± 9.3 19.3 ± 12
48.1 ± 10.2 9:6 e e e 4.6 ± 3.9 6.8 ± 8.9 0.4 ± 0.9 3.4 ± 4.3 2.9 ± 4.1 2.0 ± 2.8
0.904 0.683 e e e 0.016
