The goal of this observational study is to explore the clinical and genetic characteristics, multi-omics profiles, disease mechanisms, biomarkers, and potential therapeutic targets of hereditary ataxia (HA) in patients diagnosed with HA, primarily in the Yangtze River Delta region of China. The main questions it aims to answer are:
* What are the key pathogenic genetic variants, modifying factors and special inheritance patterns underlying HA? * How do multi-omics profiles correlate with clinical phenotypes, disease progress and mechanism in HA patients? * What are the implications of these findings for clinical practice?
Participants will:
* Undergo retrospective and prospective clinical data collection through long-term follow-up to observe disease onset, progression, and outcomes. * Provide biological samples (e.g., blood, skin) to establish a biobank for multi-omics analyses. * Be characterized using multidimensional omics technologies to identify disease-related molecular signatures, progression mechanisms, and potential regulatory targets.
Presence of progressive ataxia as a primary or persistent clinical feature;
Sufficient evidence to exclude acquired causes of ataxia (e.g., chronic intoxication, immune-mediated inflammation, acquired vitamin deficiency, acute injury, stroke, infection, or space-occupying disorders);
For sporadic late-onset cases (≥30 years), disease duration must exceed 3 years, with no prominent progressive autonomic dysfunction or other features indicative of multiple system atrophy-cerebellar type (MSA-C);
Ability and willingness of the participant or legal guardian to provide informed consent and complete the entire study process.
Patients whose causative genes identified through genetic testing and analysis do not fall within the defined spectrum of hereditary ataxias, based on consensus classifications from the MDS Task Force on Genetic Movement Disorders and the SRCA Working Group, along with current research advancements;
Presence of concurrent cerebrovascular disease, brain tumors, or severe systemic illness;
Refusal to sign informed consent or provide biological samples by the participant or legal representative;
Inability or unwillingness to participate in follow-up assessments.
Chinese patients concentrated in the Yangtze River Delta region.
Cohort
Other
None of intervention
Other interventionNo specific intervention was implemented in this study.
SARA scores
Scale for the Assessment and Rating of Ataxia (SARA) is a widely used tool specifically developed to quantify the severity of ataxia. It assesses multiple domains of ataxia, including gait, stance, sitting, speech, finger chase, nose-finger test, fast alternating hand movements, and heel-shin slide. It is applicable to patients with various forms of ataxia and provides a standardized method for tracking disease progression. * Minimum value: 0 * Maximum value: 40 * Interpretation: Higher scores indicate more severe ataxia (worse outcome).
ICARS scores
As a comprehensive assessment tool, International Cooperative Ataxia Rating Scale (ICARS) evaluates four main components of ataxia: postural and gait disturbances, limb ataxia, dysarthria, and oculomotor disorders. It is commonly used in clinical research and practice to measure the overall severity of ataxia, allowing for comparisons across different studies and patient populations. * Minimum value: 0 * Maximum value: 100 * Interpretation: Higher scores indicate more severe ataxia (worse outcome).
SDFS scores
Spinocerebellar Degeneration Functional Score (SDFS) focuses on assessing the functional status of patients with spinocerebellar degeneration by evaluating their ability to perform daily activities related to mobility. It ranges from 0 to 7： * 0: no functional handicap; * 1: no functional handicap but signs at examination; * 2: mild, able to run, walking unlimited; * 3: moderate, unable to run, limited walking without help; * 4: severe, walking with one stick; * 5: walking with two sticks; * 6: unable to walk, requiring wheelchair; * 7: confined to the bed. * Interpretation: Higher scores indicate worse functional status (worse outcome).
MMSE scores
Mini-Mental State Examination (MMSE) is a brief screening tool used to assess cognitive function, including orientation, registration, attention and calculation, recall, and language. It is widely employed to detect cognitive impairment and monitor changes in cognitive status over time in various neurological disorders. * Minimum value: 0 * Maximum value: 30 * Interpretation: Higher scores indicate better cognitive function (better outcome).
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Second Affiliated Hospital, School of Medicine, Zhejiang University
Lead sponsor
Huashan Hospital
Collaborator
