http://www.cnr.it/ontology/cnr/individuo/prodotto/ID179150

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. (Articolo in rivista)

Type

Prodotto della ricerca (Classe)
Articolo in rivista (Classe)

Label

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. (Articolo in rivista) (literal)

Anno

2009-01-01T00:00:00+01:00 (literal)

Alternative label

Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. (2009)
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
in Annals of neurology; Wiley-Blackwell Publishing, Inc., Malden (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. (literal)

Pagina inizio

532 (literal)

Pagina fine

536 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

66 (literal)

Rivista

Annals of neurology (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

5 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

4 (literal)

Note

ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

(1) Department of Human Genetics - McGill University; (2) Department of Neurological Sciences - University of Bologna; (3) Institute of Neurological Sciences - National Research Council; (4) Department of Pediatrics - University of Iowa; (5) Neurology Unit - Department of Neurosciences; (6) SA Pathology - Women's and Children's Hospital; (7) Department of Pediatrics - McGill University; (8) Department of Neurology and Neurosurgery - McGill University; (9) Queensland Brain Institute - University of Queensland; (10) Folkhälsan Institute of Genetics - Department of Medical Genetics; (11) School of Paediatric and Reproductive Health - University of Adelaide; (12) Epilepsy Service - Montreal Neurological Hospital and Institute; (13) Epilepsy Research Centre - Department of Medicine (Neurology); (14) Unit of Neurophysiopathology - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Foundation; (15) Department of Nephrology - Austin Health; (16) Neurogenetics Unit - Montreal Neurological Hospital and Institute (literal)

Titolo

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. (literal)

Abstract

OBJECTIVE: Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF). We hypothesized that mutations in SCARB2 might account for unsolved cases of progressive myoclonus epilepsy (PME) without renal impairment, especially those resembling Unverricht-Lundborg disease (ULD). Additionally, we searched for mutations in the PRICKLE1 gene, newly recognized as a cause of PME mimicking ULD. METHODS: We reviewed cases of PME referred for diagnosis over two decades in which a molecular diagnosis had not been reached. Patients were classified according to age of onset, clinical pattern, and associated neurological signs into \"ULD-like\" and \"not ULD-like.\" After exclusion of mutations in cystatin B (CSTB), DNA was examined for sequence variation in SCARB2 and PRICKLE1. RESULTS: Of 71 cases evaluated, 41 were \"ULD-like\" and five had SCARB2 mutations. None of 30 \"not ULD-like\" cases were positive. The five patients with SCARB2 mutations had onset between 14 and 26 years of age, with no evidence of renal failure during 5.5 to 15 years of follow-up; four were followed until death. One living patient had slight proteinuria. A subset of 25 cases were sequenced for PRICKLE1 and no mutations were found. INTERPRETATION: Mutations in SCARB2 are an important cause of hitherto unsolved cases of PME resembling ULD at onset. SCARB2 should be evaluated even in the absence of renal involvement. Onset is in teenage or young adult life. Molecular diagnosis is important for counseling the patient and family, particularly as the prognosis is worse than classical ULD. (literal)

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