Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease.
We describe an exceptional spinocerebellar ataxia type 2 (SCA2) phenotype combining cerebellar ataxia, levodopa-responsive parkinsonism, and motor neuron symptoms. We conclude that motor neuron symptoms and signs may be a striking manifestation in SCA2, masking pre-existing cerebellar and extrapyramidal semeiology.
Infante
Jon
J
Service of Neurology, University Hospital "Marqués de Valdecilla" (University of Cantabria), Santander, Spain.
Berciano
José
J
Service of Neurology, University Hospital "Marqués de Valdecilla" (University of Cantabria), Santander, Spain.
Volpini
Victor
V
Service of Genetics, Hospital "Durán i Reynals" (IRO), Barcelona, Spain.
Corral
Jordi
J
Service of Genetics, Hospital "Durán i Reynals" (IRO), Barcelona, Spain.
Polo
José Miguel
JM
Service of Neurology, University Hospital "Marqués de Valdecilla" (University of Cantabria), Santander, Spain.
Pascual
Julio
J
Service of Neurology, University Hospital "Marqués de Valdecilla" (University of Cantabria), Santander, Spain.
Combarros
Onofre
O
Service of Neurology, University Hospital "Marqués de Valdecilla" (University of Cantabria), Santander, Spain.
D000483:Alleles; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D001284:Atrophy / Q000473:pathology; D001933:Brain Stem / Q000473:pathology; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000150:complications / Q000188:drug therapy* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
D000978:Antiparkinson Agents; D007980:Levodopa