PRICKLE1 progressive myoclonus epilepsy in Southern Italy

Movement Disorders

Volumn 25, Issue 15, 2010, Pages 2686-2687

  Criscuolo, C ^a   De Leva, M F ^a   Sorrentino, P ^a   Piro, R ^a   Carbone, R ^a   Guacci, A ^a   De Michele, G ^a   Filla, A ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN PRICKLE1; UNCLASSIFIED DRUG;

CEREBELLUM ATROPHY; CLINICAL FEATURE; COHORT ANALYSIS; GENE MUTATION; HUMAN; ITALY; LETTER; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENCE;

BLOTTING, SOUTHERN; FEMALE; HUMANS; ITALY; MALE; MYOCLONIC EPILEPSIES, PROGRESSIVE; TUMOR SUPPRESSOR PROTEINS;

EID: 78349299390     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23350     Document Type: Letter

References (6)

1. Bassuk AG, Wallace RH, Buhr A, et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 2008; 83: 572-581
2. Berkovic SF, Mazarib A, Walid S, et al. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. Brain 2005; 128: 652-658.
3. El-Shanti H, Daoud A, Sadoon AA, et al. A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. Brain Dev 2006; 28: 353-357.
4. Straussberg R, Basel-Vanagaite L, Kivity S, et al. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology 2005; 64: 142-144.
5. Di Mauro S, Schon EA. Mitochondrial DNA mutations in human disease. Am J Med Genet 2001; 106: 18-26
6. Dibbens LM, Michelucci R, Gambardella A, et al. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol 2009; 66: 532-536.