Progressive ataxia with oculo-palatal tremor and optic atrophy
نویسندگان
چکیده
منابع مشابه
Neuroimaging 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: 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 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 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 کاملHypermetabolism of Olivary Nuclei in a Patient with Progressive Ataxia and Palatal Tremor
BACKGROUND The pathophysiology of the movement disorder progressive ataxia with palatal tremor (PAPT) is unclear. CASE REPORT A 77-year-old male presented with dysarthria, ataxia, and 1-2 Hz palatal tremor. A diagnosis of probable sporadic PAPT was established. Brain magnetic resonance imaging was normal at the presymptomatic phase but later showed olivary hypertrophy. Brain [(18)F]-fludeoxyg...
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2013
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-013-7136-3