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Spinocerebellar Ataxia 

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  1. 02-05-2024 | Spinocerebellar Ataxia | Online First

    Single-Session Cerebellar Transcranial Direct Current Stimulation Improves Postural Stability and Reduces Ataxia Symptoms in Spinocerebellar Ataxia

    Spinocerebellar ataxia (SCA) results in balance and coordination impairment, and current treatments have limited efficacy. Recent evidence suggests that combining postural training with cerebellar transcranial direct current stimulation (ctDCS) …

  2. Open Access 07-05-2024 | Spinocerebellar Ataxia | Online First

    Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia

    The functional Scale for the Assessment and Rating of Ataxia (f-SARA) assesses Gait, Stance, Sitting, and Speech. It was developed as a potentially clinically meaningful measure of spinocerebellar ataxia (SCA) progression for clinical trial use.

  3. 18-03-2024 | Spinocerebellar Ataxia | BriefCommunication

    Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report

    Spinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant form of inherited ataxia. The disease is caused by heterozygous expansion of a trinucleotide repeat encoding glutamine (CAG or CAA) in the TATA box-binding protein gene (TBP), on …

  4. 28-03-2024 | Spinocerebellar Ataxia | Erratum

    Correction to: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG‑PET presentation in spinocerebellar ataxia 17: a case report

  5. Open Access 07-05-2024 | Spinocerebellar Ataxia | Online First

    Development and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia

    Spinocerebellar ataxias (SCA) are rare inherited neurodegenerative disorders characterized by a progressive impairment of gait, balance, limb coordination, and speech. There is currently no composite scale that includes multiple aspects of the SCA …

  6. Open Access 20-04-2024 | Spinocerebellar Ataxia | Online First

    Rare association between spinocerebellar ataxia and amyotrophic lateral sclerosis: a case series

    Spinocerebellar ataxia type 2 (SCA2) is one of the most common forms of spinocerebellar ataxia (SCA), accounting for approximately 15% of all cases. Several cases of association between SCA and motor neuron disease (MND) have been described over …

  7. 16-04-2024 | Spinocerebellar Ataxia | Online First

    Two more families supporting the existence of monogenic spinocerebellar ataxia 48

    The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here …

  8. 04-03-2024 | Hyperhidrosis | BriefCommunication

    A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report

    TDP2 gene encodes tyrosyl DNA phosphodiesterase 2, an enzyme required for effective repair of the DNA double-strand breaks (DSBs). Spinocerebellar ataxia autosomal recessive 23 (SCAR23) is a rare disease caused by the pathogenic mutation of TDP2 …

  9. Open Access 27-01-2024 | Spinocerebellar Ataxia | OriginalPaper

    Abnormal vestibular-evoked myogenic potentials as a risk factor for unpredicted falls in spinocerebellar ataxia: a preliminary study

    The autosomal dominant spinocerebellar ataxias (SCA) are neurogenerative disorders characterized by progressive cerebellar ataxia due to Purkinje cell degeneration. [ 1 ] The most common forms, SCA type 1, 2, 3, and 6, are caused by expansions of …

  10. 05-04-2024 | Preimplantation Genetic Diagnostics | Online First

    PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases

    Spinocerebellar ataxia type 1 (SCA1) (OMIM 164400) is a late-onset autosomal dominant disease that belongs to a heterogeneous group of neurodegenerative hereditary diseases caused by the trinucleotide repeats expansion. SCA1 is caused by mutations …

  11. 23-01-2024 | Spinocerebellar Ataxia | BriefCommunication

    Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

    Multiple system atrophy (MSA) is a neurodegenerative condition combining cerebellar ataxia (CA), parkinsonism, and dysautonomia [ 1 ]. The consensus diagnostic criteria (CC) subdivide patients into two groups based on a predominance of either …

  12. 21-03-2024 | Spinocerebellar Ataxia | Online First

    Co-existence of Myelin Oligodendrocyte Glycoprotien Antibody-associated Disease (MOGAD) and Spinocerebellar Ataxia type 1 (SCA1): A case report

  13. 24-02-2024 | Spinocerebellar Ataxia | Online First

    Correction to: A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia

  14. 25-01-2024 | Spinocerebellar Ataxia | ReviewPaper

    Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias

    Spinocerebellar ataxias (SCAs) are autosomal dominant ataxic degenerative syndromes. The genetic causes of spinocerebellar ataxia syndromes are complex with close to 50 types of SCAs described [ 1 ]. The most common SCAs are caused by …

  15. Open Access 12-02-2024 | Spinocerebellar Ataxia | Online First

    A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia

    Spinocerebellar ataxias (SCAs) are inherited neurodegenerative diseases characterized by loss of balance, coordination, and slurred speech. Recently, a digenic mode of inheritance of TBP/STUB1 contributing to SCA was demonstrated. The clinical …

  16. 04-03-2024 | Spinocerebellar Ataxia | Online First

    Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype

    The influence of brain atrophy on sleep microstructure in Spinocerebellar Ataxias (SCAs) has not been extensively explored limiting the use of these sleep traits as surrogate biomarkers of neurodegeneration and clinical phenotype. The objective of …

  17. 11-08-2023 | Magnetic Resonance Imaging | Letter

    More than grey matter: a case of spinocerebellar ataxia type 48

  18. 12-02-2024 | Spinocerebellar Ataxia | Online First

    Serum S100β Levels Are Linked with Cognitive Decline and Peripheral Inflammation in Spinocerebellar Ataxia Type 2

    Experimental and clinical studies have indicated a potential role of the protein S100β in the pathogenesis and phenotype of neurodegenerative diseases. However, its impact on spinocerebellar ataxia type 2 (SCA2) remains to be elucidated. The …

  19. Open Access 10-07-2023 | Spinocerebellar Ataxia | OriginalPaper

    Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study

    Spinocerebellar ataxias (SCAs) are familial neurodegenerative diseases involving the cerebellum and spinocerebellar tracts. While there is variable involvement of corticospinal tracts (CST), dorsal root ganglia, and motor neurons in SCA3, SCA6 is …

  20. Open Access 27-01-2024 | Spinocerebellar Ataxia | Online First

    Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia

    Spinocerebellar ataxias (SCAs) are autosomal-dominant inherited, progressive movement disorders comprising more than 40 genetically identified SCAs [ 1 , 2 ]. The most common are SCA1, SCA2, SCA3, and SCA6, which comprise about 50% of all affected …

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