The present study indicates that the mechanism of neurodegeneration in SCA6 is associated with cytoplasmic aggregations of the [alpha]1A calcium channel protein caused by a small CAG repeat/polyglutamine expansion in CACNA1A. [ncbi.nlm.nih.gov]

Still others present with symptoms common to both SCA6 and familial hemiplegic migraine. [en.wikipedia.org]

In the present work, the analysis of two new families with small CAG expansions of the CACNA1A gene is presented. [uniprot.org]

• Falling

  She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. [ncbi.nlm.nih.gov]

  I saw one last week after 4 years of balance & eye issues, hearing loss and co-ordination problems with multiple falls. [healthunlocked.com]

  Signs and symptoms of Friedreich's ataxia can include: problems with balance and co-ordination, often causing wobbliness, clumsiness and frequent falls increasingly slurred, slow and unclear speech (dysarthria) increasing weakness in the legs – many people [nhs.uk]

  As the risk of falls becomes increasingly apparent with disease progression, it is important that the patient’s safety in day-to-day activity becomes a priority. [10] It may be necessary that the patient be evaluated for appropriate physical aids such [physio-pedia.com]

• Steatorrhea

  Clinical features Areflexia, proprioceptive dysfunction, loss of reflexes, and Babinski sign (prominent findings) By 5-10 years, gait disturbances and cerebellar signs Malabsorptive state in the early years with steatorrhea and abdominal distension Pes [emedicine.com]

• Confusion

  Moreover, isolated cases may be confused with multiple system atrophy. [ncbi.nlm.nih.gov]

  Moreover, isolated cases may be confused with multiple system atrophy. (C) 2005 Movement Disorder Society. [discovery.ucl.ac.uk]

  Episodes of FHM are characterized by some degree of hemiparesis occasionally associated with other symptoms, such as fever, drowsiness, confusion, or coma, which can be prolonged for days or weeks. [doi.org]

In selected patients with lower cranial dystonia, especially jaw and tongue dystonia, SCA2 might be considered during the diagnostic workup. [movementdisorders.org]

In 3 patients, the disease manifested as sporadic ataxia, suggesting that SCA6 should be considered in the diagnostic workup of patients with sporadic late-onset cerebellar ataxia. [doi.org]

• MRI Shows Cerebellar Atrophy

  […] are described on brain MRI: pure cerebellar atrophy, olivopontocerebellar atrophy, and global brain atrophy. [emedicine.com]

At week 4, 5 patients showed a decrease of the ICARS values by more than 10% compared with the pre-treatment baseline. [ncbi.nlm.nih.gov]

Most of the symptoms were remarkably improved after 60 days of the herbal treatment. One year after discontinuation of the treatment, she complained of gait ataxia. She was treated with the modified Chinkan-sokufu-to for 60 days. [ashg.org]

[…] of Spinocerebellar Ataxia Medical research yet now unable to discover the curative treatment for spinocerebellar ataxia, even the available treatment is not able to control the disease progression. [healthsaline.com]

Abstract Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant triplet repeat disease, predominantly affects the cerebellum with a late onset and generally good prognosis. [ncbi.nlm.nih.gov]

Prognosis Life expectancy is not reduced but the quality of life can be significantly affected. [orpha.net]

SCA Type 3, also known as Machado-Joseph disease (MJD) is the most common (21%) of all SCAs and shares the same prognosis of 10-20 years. [spinocerebellarataxia.org]

Prognosis Spinocerebellar ataxias due to repeat expansion mutations usually become sick in middle age. In addition to ataxia, other neurological findings are often present depending on the variant of SCA. [verywell.com]

Ueno Susumu Kusunoki Yusaku Nakamura Original Article First Online: 02 January 2017 Abstract Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant triplet repeat disease, predominantly affects the cerebellum with a late onset and generally good prognosis [link.springer.com]

Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies [books.google.com]

Etiology SCA6 is caused by small expansions of the trinucleotide (CAG) repeat in the CACNA1A gene (19p13) which encodes an alpha 1 subunit of a P/Q-type voltage-gated calcium channel, necessary for proper neural communication in the brain. [orpha.net]

Moreover, increased intracellular Ca 2+, which promotes transglutaminase activation, is of vital importance in the etiology of neurologic diseases. [emedicine.com]

Basic clinical, neuroimaging, and pathological, and epidemiological features have been described in the literature. However, the metabolic features of SCA6 have not been elucidated. OBJECTIVE: To investigate the metabolic features of SCA6. [ncbi.nlm.nih.gov]

Cisneros, Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect, Clinical Genetics, 85, 2, (159-165), (2013). [doi.org]

Summary Epidemiology The estimated worldwide prevalence of SCA6 is less than 1/100,000. It is most commonly seen in Japan, Korea, the Netherlands and Germany. [orpha.net]

Genetic, clinical, pathological and pathophysiological data of SCA6 patients are reviewed and compared to those of other SCAs with expanded CAG repeats as well as to those of its allelic channelopathies, with particular reference to Episodic Ataxia type [ncbi.nlm.nih.gov]

The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology Stoyas CA, La Spada AR Handbook of clinical neurology, 2018, 147, p 143 Cajal bodies in neurons Lafarga M, Tapia O, Romero AM, et al. [myobase.org]

Alternating hemiplegia of childhood: insights into its pathophysiology. J Child Neurol. 1998; 13 39-45 8 Terwindt G, Kors E, Haan J, Vermeulen F, van den Maagdenberg A, Frants R. et al. [doi.org]

Pure midbrain infarction: clinical, radiologic, and pathophysiologic findings. Neurology. 2005;64:1227–32. CrossRef PubMed Google Scholar 19. [link.springer.com]

There is currently no treatment for this debilitating disorder and thus a pressing need to develop preventative therapies. [ncbi.nlm.nih.gov]

This prevented the development of SCA6 by blocking the expression of α1ACT. Because SCA6 is an inherited disease, the findings could be used one day for screening and prevention. [sciencedaily.com]

There is no known prevention of spinocerebellar ataxia. Those who are believed to be at risk can have genetic sequencing of known SCA loci performed to confirm inheritance of the disorder. [en.wikipedia.org]

Further testing showed that even when deprived of thyroid hormone, negative changes in SCA6 Purkinje cells could be prevented using thyroid releasing hormone. [medicalxpress.com]