Spinocerebellar Ataxias (SCA)
Ataxias are a heterogeneous group of disorders characterized by lack of coordination of movements, gait instability, balance difficulties, and speech alterations. They can result from damage to the cerebellum or cerebellar pathways.
The causes include:
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Genetic Ataxias: Autosomal dominant spinocerebellar ataxias, including SCA1, SCA2, SCA27B, and recessive ataxias such as Friedreich’s ataxia and CANVAS.
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Acquired Causes: Alcoholism, vitamin deficiencies, autoimmunity, paraneoplastic syndromes, stroke, or inflammatory diseases.
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Sporadic Degenerative Ataxias: For example, MSA-C (Multiple System Atrophy, cerebellar type).
The main symptoms include:
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Ataxic gait.
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Cerebellar dysarthria.
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Intention tremor.
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Dysdiadochokinesia.
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Postural instability.
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Peripheral neuropathy, oculomotor disorders, and, in genetic forms, systemic symptoms may also be present.
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Diagnostic evaluation includes:
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Brain MRI (cerebellar atrophy).
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Targeted genetic testing or WES/WGS for hereditary forms.
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Metabolic and immunological tests.
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EMG and evoked potentials if associated neuropathy is suspected.
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Available therapies
Treatment depends on the underlying cause:
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Deficiency forms: nutritional supplementation.
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Autoimmune forms: immunotherapy.
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Genetic ataxias: symptomatic therapy and intensive rehabilitation.
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Degenerative forms: there are no curative treatments, but physiotherapy and speech therapy improve stability and functional efficacy.
Research in progress
Research includes studies on iPSC models, gene therapies for monogenic ataxias, identification of novel genes, and clinical trials aimed at delaying disease progression..
Reference laboratory
Contacts and informations
Dott. Alessio Di Fonzo
Mail: alessio.difonzo@policlinico.mi.it
Administrative Office: elena.oriani@policlinico.mi.it