Literature DB >> 30231126

Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study.

Laudiane Reis Santos1, Hélio Afonso Ghizoni Teive2, Francisco Diego Negrão Lopes Neto3, Ana Carolina Brandt de Macedo4, Neliana Maria de Mello5, Marise Bueno Zonta1,5.   

Abstract

OBJECTIVES: Spinocerebellar ataxia type 10 (SCA10) is characterized by gait ataxia, dysarthria, nystagmus, epilepsy, reduced cognitive ability and depression, which lead to functional loss and behavioral changes. These signs gradually evolve and may interfere with the physical, emotional, and social aspects of quality of life (QoL). To assess the self-perception of quality of life and its association with disease duration, severity of ataxia, balance and functional independence.
METHODS: This study focused on the disease duration, ataxia severity (SARA), balance (Berg Balance Scale), functionality (FIM, Lawton IADL) and QoL (SF-36 v.2) of 15 individuals with SCA10.
RESULTS: The population sample consisted of eight females and seven males, with a mean age of 43.8 (± 8.2) years, mean age of symptom onset of 33.1 (± 8.9) years and mean disease duration of 9.8 (± 11.2) years. The mean Berg Balance Scale score was 47.2 (± 12), mean SARA score (n = 14) 11.5 (± 7.3), mean Lawton IADL score 20.4 (± 1.8) and mean FIM score 120.3 (± 5.4). Individuals with SCA10 had a greater impairment of QoL in the "role-physical" domain (p = 0.04). The longer the disease duration (p = 0.02), risk of falling (p = 0.04), severity of ataxia (p = 0.00) and functional dependence in activities of daily living (p = 0.03) and instrumental activities of daily living (p = 0.00), the worse the QoL was in the "physical functioning" domain, with a decrease of 1.62 points for each year of disease duration.
CONCLUSION: In this sample, the greatest impairment of QoL in individuals with SCA10 was observed in "physical functioning" and "physical role".

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Year:  2018        PMID: 30231126     DOI: 10.1590/0004-282X20180077

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN: 0004-282X            Impact factor:   1.420


  2 in total

1.  ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.

Authors:  C Alejandra Morato Torres; Faria Zafar; Yu-Chih Tsai; Jocelyn Palafox Vazquez; Michael D Gallagher; Ian McLaughlin; Karl Hong; Jill Lai; Joyce Lee; Amanda Chirino-Perez; Angel Omar Romero-Molina; Francisco Torres; Juan Fernandez-Ruiz; Tetsuo Ashizawa; Janet Ziegle; Francisco Javier Jiménez Gil; Birgitt Schüle
Journal:  HGG Adv       Date:  2022-08-15

2.  Spinocerebellar Ataxia 12 Patients have better Quality of Life than Spinocerebellar Ataxia 1 and 2.

Authors:  Surekha Dabla; Divyani Garg; Rajeev Aggarwal; Nand Kumar; Mohammad Faruq; Roopa Rajan; Garima Shukla; Vinay Goyal; Ravindra Mohan Pandey; Achal Kumar Srivastava; Surekha Dabla; Divyani Garg; Garima Shukla
Journal:  Ann Indian Acad Neurol       Date:  2022-04-06       Impact factor: 1.714

  2 in total

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