Τίτλος:
"Atypical" atypical parkinsonism: New genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-A diagnostic guide
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Recently, a number of genetic parkinsonian conditions have been recognized that share some features with the clinical syndromes of progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and multiple system atrophy (MSA), the classic phenotypic templates of atypical parkinsonism. For example, patients with progranulin, dynactin, or ATP13A gene mutations may have vertical supranuclear gaze palsy. This has made differential diagnosis difficult for practitioners. In this review, our goal is to make clinicians aware of these genetic disorders and provide clinical clues and syndromic associations, as well as investigative features, that may help in diagnosing these disorders. The correct identification of these patients has important clinical, therapeutic, and research implications. © 2013 Movement Disorder Society.
Συγγραφείς:
Stamelou, M.
Quinn, N.P.
Bhatia, K.P.
Περιοδικό:
Movement disorders : official journal of the Movement Disorder Society
Λέξεις-κλειδιά:
adenosine triphosphate; alglucerase; ataxin 3; atp13a protein; chenodeoxycholic acid; chitotriosidase; cholestanetriol 26 monooxygenase; cholesterol; DNA directed DNA polymerase gamma; dopamine transporter; dynactin; fragile X mental retardation protein; fragile x mental retardation protein 1; fused in sarcoma protein; glucosylceramidase; glycolipid; hydroxymethylglutaryl coenzyme A reductase inhibitor; imiglucerase; ioflupane i 123; leucine rich repeat kinase 2; levodopa; miglustat; mitochondrial DNA; presenilin; presenilin 1; prion protein; progranulin; TAR DNA binding protein; tau protein; unclassified drug, Alzheimer disease; amyotrophic lateral sclerosis; article; ataxia; autosomal recessive disorder; cerebrotendinous xanthomatosis; clinical feature; cognitive defect; corticobasal degeneration; Creutzfeldt Jakob disease; dementia; diagnostic test; differential diagnosis; diffusion weighted imaging; disease association; disorders of mitochondrial functions; dyskinesia; electroencephalography; enzyme replacement; family history; fragile X syndrome; frontotemporal dementia; Gaucher disease; gene mutation; genetic analysis; genetic disorder; hallucination; heterozygote; human; Kufor Rakeb syndrome; Medline; neuroimaging; neurologic disease; Niemann Pick disease; nuclear magnetic resonance imaging; onset age; ophthalmoplegia; Parkinson disease; parkinsonism; peripheral neuropathy; Perry syndrome; phenotype; prion disease; priority journal; progressive supranuclear palsy; risk factor; Shy Drager syndrome; spasticity; spinocerebellar degeneration; symptom; systematic review; treatment response, atypical parkinsonism; corticobasal degeneration; genetic; multiple system atrophy; progressive supranuclear palsy; PSP look-alikes, Adenosine Triphosphatases; Humans; Intercellular Signaling Peptides and Proteins; Multiple System Atrophy; Mutation; Nerve Degeneration; Parkinson Disease; PubMed; Supranuclear Palsy, Progressive; tau Proteins
