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Clinical Pathologic Conference |

Progressive Parkinsonism, Balance Difficulties, and Supranuclear Gaze Palsy

Roberto Erro, MD1; Andrew J. Lees, MD, FRCP2; Marcello Moccia, MD3; Marina Picillo, MD3; Silvana Penco, MD, PhD4; Lorena Mosca, MD4; Carmine Vitale, MD, PhD5,6; Paolo Barone, MD, PhD7
[+] Author Affiliations
1Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom
2Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom
3Department of Neurological Science, University Federico II, Naples, Italy
4Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca’Granda Hospital, Milan, Italy
5IDC Hermitage–Capodimonte, Naples, Italy
6University Parthenope, Naples, Italy
7University of Salerno, Center for Neurodegenerative Diseases–CEMAND, Salerno, Italy
JAMA Neurol. 2014;71(1):104-107. doi:10.1001/jamaneurol.2013.5149.
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A 76-year-old man presented with a 4-year history of a progressive parkinsonian syndrome. It started with slowness of gait and mood dysfunction. Symptoms slowly progressed and further included occasional unexplained falls. On examination, he showed a severe parkinsonian syndrome featuring bradykinesia, rigidity (axial > appendicular), and positive pull-test finding. Moreover, there was an upgaze supranuclear palsy and slow saccades on vertical plane. Magnetic resonance imaging was performed that revealed significant basal ganglia lesions and white matter hyperintensities, including periventricular regions and both frontal and temporal subcortical areas, along with moderate widespread atrophy and ventricular enlargement. Here, we reveal the pathological diagnosis and discuss the approach to the clinical data.

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Figure 1.
Magnetic Resonance Image Findings

Axial fluid-attenuated inversion recovery images show areas of encephalomalacia within the basal ganglia and cerebral white matter including periventricular regions and both frontal and temporal subcortical areas.

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Figure 2.
NOTCH3 Exon Sequence Analysis in Our Patient

Sequencing with forward primer shows the heterozygous mutation CCG→CTG at codon 103 of exon 3 in the patient (A) and the wild-type allele CCG in a control individual (B).

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