Because of the constellation of findings, she was diagnosed with GAD-65 antibody-associated cerebellar ataxia. Her symptoms improved after a short course of steroids and IVIG. She is planned for monthly IVIG for at least 6 months. Elevated serum GAD-65 antibody levels are found i...
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of symptoms typically occurs in adulthood; however...
Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. The gl...
a severe loss of function. The brain and cerebellar phenotype reported in this study is partially overlapping to the one observed in theNav2mouse model. Indeed, hypomorphic mutant mice lacking the full-lengthNav2transcript exhibit ataxia with reduced volume and abnormal foliation of the vermis mostl...
Two different clinical subtypes have been described based on the pre- dominating motor features noted during the early stages of the disease: the MSA-P subtype (dominated by par- kinsonism) and the MSA-C subtype (dominated by cere- bellar ataxia). However, in the later stages of the ...
it is practical one and allows the clinician at bedside to prioritize genetic testing. Importantly, treatable causes of cerebellar ataxia must be excluded and screening for these conditions should be part of the evaluation of any individual presenting with cerebellar signs and symptoms. Table2includes...
Transient neurologic deficits occurred in 15 patients (11%): worsening of presenting symptoms (4), cardiac arrhythmia (3), vertigo (2), diplopia (2), ataxia (3), seizure (1), decreased consciousness (1), and limb numbness (3). Sustained neurologic deficits occurred in 3 patients: fourth ...
it is practical one and allows the clinician at bedside to prioritize genetic testing. Importantly, treatable causes of cerebellar ataxia must be excluded and screening for these conditions should be part of the evaluation of any individual presenting with cerebellar signs and symptoms. Table2includes...