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

Fifty six years lady presented with pure cerebellar ataxia with positive family history from paternal side presented to our clinic. DNA screening found to be SCA6. This is the first case report of SCA6 from India. [ncbi.nlm.nih.gov]

• Fishing

  Based on this result and using data from different Genome Databases, we performed an interspecies comparison of exon 47 and discovered that the poly(Q) tract is present in all the species studied, with the exception of primitive fish and rodents. [ncbi.nlm.nih.gov]

• Pharyngitis

  However, abnormalities in the pharyngeal phase in SCA6 were indistinguishable from those in SCA3, with no explainable reason. To determine the reason, we repeatedly performed videofluoroscopic examinations (VF) in 14 patients with SCA6. [ncbi.nlm.nih.gov]

• Respiratory Disorders

  SCA6 patients had a reduction in slow wave sleep and a higher frequency of snoring and respiratory disorders during sleep when compared to the control group. 2016 European Sleep Research Society. [ncbi.nlm.nih.gov]

• Snoring

  SCA6 patients had a reduction in slow wave sleep and a higher frequency of snoring and respiratory disorders during sleep when compared to the control group. 2016 European Sleep Research Society. [ncbi.nlm.nih.gov]

• Progressive Dysphagia

  We found that conventionally monitored somatosensory evoked potentials at least partly reflected progressive dysphagia. [ncbi.nlm.nih.gov]

• Short Arm

  Expansions of the CAG repeat in the CACNA1A gene on the short arm of the chromosome 19 induce SCA6, and point mutations in the same gene are responsible for EA2 and FHM. [ncbi.nlm.nih.gov]

• Suggestibility

  In addition, clinical and neuro-otological examinations suggested that SCA6 is a disease with predominantly cerebellar dysfunction. [ncbi.nlm.nih.gov]

• Episodic Headache

  Some patients have ataxia combined with episodic headaches or nausea, suggesting an overlap among SCA6, eposidic ataxia type 2, and familial hemiplegic migraine. [ncbi.nlm.nih.gov]

• Focal Neurological Deficit

  Clinical manifestations were pleomorphic, including episodes of altered consciousness precipitated by minor head trauma, focal neurological deficits precipitated or not by minor head trauma, and migraine without aura, besides progressive late-onset cerebellar [doi.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]

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

• Ischemic Changes

  Ischemic changes, homozygous mutation, and diabetes mellitus as well as aging might have contributed to the observed progressive dysphagia. [ncbi.nlm.nih.gov]

Currently, there is no treatment for this neurodegenerative disease. Successful therapeutic strategies must target a valid pathological mechanism; thus, understanding the underlying mechanisms of disease is crucial to finding a proper treatment. [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]

There are no drug based treatments currently available for SCA Type 6. Physical Therapy, Speech Pathology can help patients manage the symptoms. [en.wikipedia.org]

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]

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]

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]

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]

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]

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]

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

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]

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]