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Abnormal DaTSCAN and Atypical Parkinsonism in SCA12

Latorre, A; Del Gamba, C; Menozzi, E; Balint, B; Brugger, F; Bhatia, KP; (2019) Abnormal DaTSCAN and Atypical Parkinsonism in SCA12. Movement Disorders Clinical Practice , 6 (5) pp. 400-402. 10.1002/mdc3.12751.

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Abstract

The spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominantly inherited progressive ataxia disorders, with a variable clinical presentation. More than 40 gene loci and mutations have been identified so far; however, an expansion of a CAG nucleotide repeat is the cause of the most common SCAs (SCA1, 2, 3 and 6) 1. SCA12 is considered rather distinct as it presents with a characteristic action tremor in the upper limbs, often mistaken for essential tremor. Cerebellar ataxia and other neurological features may occur later in the disease course 2, 3. Here we report a patient with genetically confirmed SCA12, who presented with atypical parkinsonism even featuring an abnormal DaTSCAN.

Type: Article
Title: Abnormal DaTSCAN and Atypical Parkinsonism in SCA12
DOI: 10.1002/mdc3.12751
Publisher version: https://doi.org/10.1002/mdc3.12751
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical Neuroscience
URI: https://discovery.ucl.ac.uk/id/eprint/10074027
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