spinocerebellar ataxia type 3
Conditions
Interventions
Case series:N/A
Sponsors
Xiangya Hospital, Central South University
Eligibility
Sex/Gender
All
Age
18 Years to 100 Years
Inclusion criteria
Inclusion criteria: 1. Subjects with the symptom and sign of ataxia, aged =18 years; 2. Subjects having been genetically diagnosed with SCA3/MJD, or his/her pedigree gene has been identified with SCA3/MJD; 3. Subjects having ability to understand and provide written informed consent andvoluntary consent to participate in the study.
Exclusion criteria
Exclusion criteria: 1. Patients with hereditary ataxia(HA) having indentified by the way of recessive inheritance, X-linked andmitochondria; 2. Patients having been excluded with SCA3/MJD by genetic diagnosis.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Scale for the assessment and rating of ataxia (SARA); | — |
Secondary
| Measure | Time frame |
|---|---|
| Inventory of Non-Ataxia Signs (INAS);8 m walking time (8MW);9-hole peg test (9HPT);Functional stage estimation;Unified Huntington's Disease Rating Scale IV (UHDRS-IV);EQ-5D;Barthel index of ADL;Patient Health Questionnaire (PHQ-9);General Anxiety Disorder-7 (GAD-7);Montreal Cognitive Assessment (MoCA);Relation between the genetic modifiers and phenotype and disease progression rates; | — |
Countries
China
Contacts
Public ContactJiang Hong
Xiangya Hospital, Central South University
Outcome results
None listed