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Título

Kinetic tremor in Patient with type 2 Spinocerebellar ataxia (SCA2) and family history of Essential Tremor: Atypical presentation or Overlap of Movement Disorders?

RESUMO

Case Presentation: A 59 years-old male patient presented at our outpatient clinic with a medical history of imbalance and dysarthria initiated at the age of 39 and progressed slowly. By the age of 57, the condition has worsened dramatically, with recurrent falls and wheelchair dependence. At the same period, he presented with cephalic and upper limbs tremor, hypersomnia, depressive symptoms, and anxiety. A cranial CT scan showed cerebral atrophy and genetic test for ataxia panel confirmed the diagnosis of type 2 Spinocerebellar Ataxy (SCA2) with 22 and 36 CAG repetitions. Genealogy noticed many cases of SCA2 (father, paternal grandmother, maternal grand-grandfather, two sisters, nephew, and daughter). His mother had cephalic essential tremor. On physical examination, he showed severe gait ataxia, impaired walk, postural tremor on upper limbs and head, dysdiadochokinesia and ocular hypsometrical movements. He was taking Levodopa, Amantadine e Paroxetine with no good response. Discussion: Type 2 Spinocerebellar ataxia (SCA2) is a rare neurodegenerative disease, dominant autosomal, with a prevalence of 1-2 cases in 100000. The clinical findings are ataxic gait, dysarthria, dysmetria, dysdiadochokinesia and ocular hypsometrical movements. About 10% of cases of SCA2 present kinetic tremor. Essential tremor is the most common cause of kinetic tremor, with a global prevalence of 1%, occuring specially on males. It presents a dominant autosomal heritage with reduced penetration. Additonally ET (essential tremor) possesses a genetical and phenotypical heterogeneity and represents a series of syndromic symptoms, instead of just one disease. Final Considerations: In the face of these statements, we can understand this particular case as a rare disease, SCA2, associated with the cephalic tremor, oppening the possibility of a diagnosis which considers the overlapping, of pathologies, ataxia and essential tremor or an atypical presentation of SCA2.

Palavras Chave

spinocerebellar ataxia; neurodegenerative disease; kinetic tremor; atypical presentation; genetical; essential tremor