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Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.
Luo, Weili; Zheng, Xiaosheng; Lin, Zhiru; Luo, Wei.
Afiliación
  • Luo W; Department of Neurology, Municipal Hospital Affiliated to the Taizhou University, Taizhou, China.
  • Zheng X; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Lin Z; Department of Neurology, Wenzhou Central Hospital, Wenzhou, Zhejiang, China.
  • Luo W; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Tremor Other Hyperkinet Mov (N Y) ; 14: 28, 2024.
Article en En | MEDLINE | ID: mdl-38854909
ABSTRACT

Background:

The tremor characteristics of patients with spinocerebellar ataxia 12 (SCA12) are often likened to those in patients with essential tremor (ET); however, data are sparse, and videotaped tremor examinations are rare. Case Report A 37-year-old woman with progressive hand and head tremors underwent genetic testing after conventional diagnostics failed to explain her symptoms. A PPP2R2B variation confirmed spinocerebellar ataxia type 12 (SCA12), a condition not previously considered because classical cerebellar signs were absent. The tremor characteristics of this patient differed in numerous respects from those seen in patients with ET.

Discussion:

Although often likened to ET, under careful scrutiny, the tremor characteristics observed in this patient with SCA12 were inconsistent with those typically seen in ET. Such discrepancies highlight the necessity of careful phenotyping for tremor disorders, particularly in familial cases. Recognizing the specific tremor phenomenology of SCA12 and distinguishing it from ET is crucial to avoid misdiagnosis and to guide appropriate management and familial counseling. Highlights This report characterizes in detail an early-stage SCA12 patient initially misdiagnosed as essential tremor, underscoring the importance of nuanced clinical assessment and genetic testing in atypical tremor cases. Similar patients should be meticulously phenotyped to prevent misclassification and enhance our understanding of tremor pathophysiology.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Temblor / Ataxias Espinocerebelosas / Temblor Esencial Límite: Adult / Female / Humans Idioma: En Revista: Tremor Other Hyperkinet Mov (N Y) Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Temblor / Ataxias Espinocerebelosas / Temblor Esencial Límite: Adult / Female / Humans Idioma: En Revista: Tremor Other Hyperkinet Mov (N Y) Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido