Huntington's disease (HD) is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. We report a 54-year-old male who presented with Parkinsonism as the initial symptom of the disease. Genetic analysis revealed expansion of 40 CAG repeats, and brain MRI showed both severe caudate nuclei and cortical atrophy. Single-photon emission computed tomography (SPECT) imaging of the dopamine transporter showed nigrostriatal pathway degeneration. Here, we also describe his 2 years of clinical followup after ensuing dopaminergic stimulation.
机构:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Movement Disorders Unit, Dept Neurol, E-08193 Barcelona, Spain
St Pau Inst Biomed Res IIB St Pau, Barcelona, SpainUniv Autonoma Barcelona, Hosp Santa Creu & St Pau, Movement Disorders Unit, Dept Neurol, E-08193 Barcelona, Spain
Perez-Perez, J.
Martinez-Horta, S.
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Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Movement Disorders Unit, Dept Neurol, E-08193 Barcelona, Spain
St Pau Inst Biomed Res IIB St Pau, Barcelona, SpainUniv Autonoma Barcelona, Hosp Santa Creu & St Pau, Movement Disorders Unit, Dept Neurol, E-08193 Barcelona, Spain
Martinez-Horta, S.
Pagonabarraga, J.
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Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Movement Disorders Unit, Dept Neurol, E-08193 Barcelona, Spain
St Pau Inst Biomed Res IIB St Pau, Barcelona, Spain
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Psichiat Dept, E-08193 Barcelona, SpainUniv Autonoma Barcelona, Hosp Santa Creu & St Pau, Movement Disorders Unit, Dept Neurol, E-08193 Barcelona, Spain
Pagonabarraga, J.
Carceller, M.
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Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, SpainUniv Autonoma Barcelona, Hosp Santa Creu & St Pau, Movement Disorders Unit, Dept Neurol, E-08193 Barcelona, Spain
Carceller, M.
Kulisevsky, J.
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Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Movement Disorders Unit, Dept Neurol, E-08193 Barcelona, Spain
St Pau Inst Biomed Res IIB St Pau, Barcelona, SpainUniv Autonoma Barcelona, Hosp Santa Creu & St Pau, Movement Disorders Unit, Dept Neurol, E-08193 Barcelona, Spain
Kulisevsky, J.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,
2014,
85
: A103
-
A104