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.

Text Bhatia_AAM_Abnormal DaTSCAN and atypical parkinsonism in SCA12.pdf - Accepted Version Access restricted to UCL open access staff Download (583kB)

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.

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