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

Dysarthria was considered to be present in 21 persons and to be absent in 5, although other neurological abnormalities were present. [doi.org]

It usually presents with the cerebellar signs of ataxia, dysarthria and dysphagia. Some patients also have episodic vertigo and diplopia. [orpha.net]

A periodic leg movements in sleep (PLMS) index>15/h was present in four of the five patients; a PLMS index>5/h was present in all patients. Significant disturbance of rapid eye movement (REM) sleep was not found. [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]

• Rhinitis

  The patient was also diagnosed with irritable bowel syndrome, allergic rhinitis, and temporomandibular joint disorder. Social history The patient lives with her husband and has two adult children. [omicsonline.org]

• 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]

• 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]

• 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]

  Headache episodes were recorded in 5 patients, and in 3 these were definitely absent. [doi.org]

• Downbeat Nystagmus

  We report two siblings with spinocerebellar ataxia type 6 (SCA 6), both showing downbeat nystagmus (DBN) as a predominant clinical feature. [ncbi.nlm.nih.gov]

  Examination showed slight downbeat nystagmus on lateral gaze, prominent positional downbeat nystagmus with vertigo, and mild truncal ataxia. Brain MRI showed moderate vermian atrophy. [jnnp.bmj.com]

  Eye movement abnormalities such as gaze evoked and downbeat nystagmus, impaired smooth pursuit and abnormal vestibulo-ocular reflex are commonly seen in SCA6 patients. [orpha.net]

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]

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]

Management and treatment There is no cure for SCA6 and treatment is supportive. Acetazolamide may help with episodes of ataxia but does not halt the progression of the disease. [orpha.net]

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]

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]

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]

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]

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]

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]

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]