Palatal Tremor in POLG -Associated Ataxia
نویسندگان
چکیده
منابع مشابه
Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
BACKGROUND Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE POLG mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an...
متن کاملNeuroimaging features of progressive ataxia and palatal tremor.
A 56-year-old man complained about a 6-year-history of gait disturbance and bilateral tinnitus. His neurological family history was unremarkable. Physical examination disclosed gait ataxia, slowly horizontal saccadic pursuit and a 2Hz frequency palatal tremor. Neuroimaging unveiled inferior olivary complex hypertrophy bilaterally and mild cerebellar atrophy (Figure), highly suggestive of progre...
متن کاملProgressive ataxia and palatal tremor associated with dense pontine calcification: A unique case.
Intracranial calcifications are associated with a variety of disorders, but marked pontine calcification without an underlying structural lesion has rarely been reported. Here we present a unique case with progressive ataxia palatal tremor (PAPT) associated with marked pontine calcification. A previously healthy 53-year old woman first noticed balance problems, slurred speech, and a constant oc...
متن کاملProgressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors.
Palatal tremor has been subdivided into essential (EPT) and symptomatic palatal tremor (SPT). A subgroup of the SPT form has a syndrome of progressive ataxia and palatal tremor (PAPT). Published details of cases of PAPT are sparse and the disorder appears heterogeneous. We present clinical and MRI features of six patients with sporadic PAPT who attended The University Health Network between 199...
متن کاملPalatal Myoclonus (syn. Palatal Tremor).
Symptomatic palatal tremor is caused by a lesion in the triangle of Guillain and Mollaret and is associated with hypertrophic olivary degeneration that has multiple causes. Essential palatal tremor has no currently demonstrable cause and no accompanying physical or radiological signs. But it is probable that an organic genesis will become apparent. I suggest that some examples of palatal tremor...
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ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2015
ISSN: 2330-1619
DOI: 10.1002/mdc3.12195