Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype

Clin Neurol Neurosurg. 2013 Oct;115(10):2217-8. doi: 10.1016/j.clineuro.2013.06.020. Epub 2013 Jul 27.

Authors

Barbara Borroni¹, Maria Sofia Cotelli, Eleonora Marchina, Massimiliano Filosto, Enrico Premi, Alessandro Padovani

Affiliation

¹ Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia, Italy. Electronic address: [email protected].

PMID: 23895867
DOI: 10.1016/j.clineuro.2013.06.020

No abstract available

Keywords: Chorea; LRRK2; Mutation; Parkinson; Pyramidal signs.

Publication types

Case Reports

MeSH terms

Antiparkinson Agents / therapeutic use
Athetosis / genetics*
Athetosis / physiopathology*
Benzothiazoles / therapeutic use
Chorea / genetics*
Chorea / physiopathology*
Female
Gait Disorders, Neurologic / etiology
Humans
Hypokinesia / etiology
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Levodopa
Magnetic Resonance Imaging
Middle Aged
Mutation / genetics*
Neurologic Examination
Phenotype
Positron-Emission Tomography
Pramipexole
Protein Serine-Threonine Kinases / genetics*
Tomography, Emission-Computed, Single-Photon
Treatment Outcome
Tremor / etiology

Substances

Antiparkinson Agents
Benzothiazoles
Levodopa
Pramipexole
LRRK2 protein, human
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Protein Serine-Threonine Kinases