Expression of these mutant channels results in cells with drastically decreased current density compared to wild-type expressing cells. In cell-based assays, it was found that these mutant channels aggregate in the endoplasmic reticulum, not dissimilar from that seen in the CAG expansion mutants above. R1664Q is in the 4th transmembrane spanning segment of domain 4 and, presumably, affects the channels voltage dependence of activation. Little is known about the point mutations resulting in overlapping phenotypes of familial hemiplegic migraine and episodic ataxia. R583Q is present in the 4th transmembrane spanning region of domain 2 while the I1710T mutation is segment 5 of domain 4. Diagnosis
Spinocerebellar Ataxia Diagnosis is done via genetic testing. Your Neurologist can administer the test. Spinocerebellar Ataxia is often misdiagnosed as other diseases such as ALC or Parkinsons Disease. Screening
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. Treatment
There are no drug based treatments currently available for SCA Type 6, however, there are supportive treatments that may be useful in managing symptoms. Physical Therapy, Speech Pathology can help patients manage the symptoms. Epidemiology
The prevalence of SCA6 varies by culture. In Germany, SCA6 accounts for 10-25% of all autosomal dominant cases of SCA (SCA itself having a prevalence of 1 in 100,000). This prevalence in lower in Japan, however, where SCA6 accounts for only ~6% of spinocerebellar ataxias.
Fasting gastrin levels on at least three occasions
Gastric acid secretion and pH (normal basal gastric acid secretion is less than 10 mEq/hour; in Zollinger–Ellison patients, it is usually more than 15 mEq/hour)
An increased level of chromogranin A is a common marker of neuroendocrine tumors.In addition, the source of the increased gastrin production must be determined using MRI or somatostatin receptor scintigraphy. Treatment
Proton pump inhibitors (such as omeprazole and lansoprazole) and histamine H2-receptor antagonists (such as famotidine and ranitidine) are used to slow acid secretion. Once gastric acid is suppressed, symptoms normally improve. Surgery to remove peptic ulcers or tumors might also be considered. Epidemiology
The condition most commonly affects people between the ages of 30 and 60. The prevalence is unknown, but estimated to be about 1 in 100,000 people. History
Sporadic reports of unusual cases of peptic ulceration in the presence of pancreatic tumors occurred prior to 1955, but R. M. Zollinger and E. H. Ellison, surgeons at Ohio State University, were the first to postulate a causal relationship between these findings. The American Surgical Association meeting in Philadelphia in April 1955 heard the first public description of the syndrome, and Zollinger and Ellison subsequently published their findings in Annals of Surgery. References


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