[[(123)I]-Ioflupane SPECT in combination with MIBG myocardial scintigraphy in Parkinson's disease: a case series study].

Metaiodobenzylguanidine (MIBG) myocardial scintigraphy is widely accepted as a beneficial tool for differentiating Parkinson's disease (PD) from other Parkinson-related disorders (PRD). In Japan, dopamine transporter (DAT) imaging, which can evaluate presynaptic degeneration of dopamine neurons, has been applied in clinics since 2014. The present study investigated the utility of [(123)I]-Ioflupane single photon emission computed tomography (SPECT) combined with MIBG myocardial scintigraphy for the diagnosis of PD.

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.

Importance: Although mutations in 26 causative genes have been identified in the spinocerebellar ataxias (SCAs), the causative genes in a substantial number of families with SCA remain unidentified.

Objective: To identify the causative gene of SCA in 2 Japanese families with distinct neurological symptoms and radiological presentations.

Design, Setting, And Participants: Clinical genetic study at a referral center of 11 members from 2 Japanese families, which started in 1997.