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Progressive Ataxia and Palatal Tremor: case presentation of a rare disease

RESUMO

Case presentation: A 54-years-old female patient, with hypertension and obesity, presented with a 3-years history of progressive speech disorder, evolving with hoarse voice and slurred speech. She also had gait instability and dysphagia. Such changes were better perceived by family members than by the patient herself. The physical examination showed slurred speech, palatal tremor, gait with a slightly widened base and presence of dysmetria and dysdiadochokinesia in left upper limb. A MRI brain showed only moderate cerebellar atrophy and bilateral and signal abnormality in the inferior olivary nuclei bilaterally. Her clinical presentation and neuroimaging finding supportt the diagnosis of progressive ataxia and palatal tremor (PAPT).
Discussion: PAPT is a rare and progressive neurodegenerative disease associated with brainstem and cerebellum lesions, especially at Guillain-Mollaret Triangle or dentato-rubro-olivary pathway (DROP). PAPT may be divided into sporadic and familial forms. Familial causes includes Alexander's disease, polymerase gamma mutations, spinocerebellar ataxia type 20, and GM2 gangliosidosis. Sporadic cases are still poorly understood, with adulthood onset, and an uncertain cause. In some previous reports, histopathological analysis point to TAU 3R and 4R pathology and hypertrophic olivary degeneration (HOD) as the cause of sporadic form. PAPT clinical features are palatal tremor (usually incidental), ataxia of limbs and gait, dysarthria and dysphagia, in addition to other signs and symptoms of brainstem or autonomic disturbances. Typical MRI abnormalities are high signal in the ION and cerebelar atrophy. At the present moment, there is no treatment to prevent the disease progression.
Final comments: Progressive Ataxia and Palatal Tremor (PAPT) is a rare neurodegenerative disease and there are relatively few studies describing this syndrome. Careful examination is important to identification of this presentation.

Palavras Chave

progressive ataxia and palatal tremor; ataxia; palatal tremor; cerebellum