Spinal muscular atrophy with progressive myoclonic epilepsy: Report of new cases and review of the literature

Neuropediatrics

Volumn 33, Issue 6, 2002, Pages 314-319

  Haliloglu, G ^a   Chattopadhyay, A ^b   Skorodis, L ^b   Manzur, A ^b   Mercuri, E ^b   Talim, B ^a   Akcoren Z ^a   Renda, Y ^a   Muntoni, F ^b   Topaloǧlu, Haluk ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Motor Neuron Disease; Myoclonic Epilepsy; SMN Gene; Spinal Muscular Atrophy

Indexed keywords

CARNITINE; CLONAZEPAM; CREATINE KINASE; ETHOSUXIMIDE; ETIRACETAM; LAMOTRIGINE; PHENOBARBITAL; VALPROIC ACID;

ADOLESCENT; ADULTHOOD; ANAMNESIS; ANTERIOR HORN CELL DISEASE; ARTICLE; BODY POSTURE; CASE REPORT; CELL DEGENERATION; CHILD DEATH; CHROMOSOME 5; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTROENCEPHALOGRAPHY; ELECTROPHYSIOLOGY; EPILEPTIC DISCHARGE; FAMILY; FEMALE; GENE DELETION; GENE ISOLATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GRAND MAL SEIZURE; HUMAN; HUMAN TISSUE; KARYOTYPE; MALE; MENTAL DEVELOPMENT; MOTOR ACTIVITY; MOTOR DYSFUNCTION; MOTOR NEURON DISEASE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MYOCLONUS EPILEPSY; NERVOUS SYSTEM; NEURONAL CEROID LIPOFUSCINOSIS; ONSET AGE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TAY SACHS DISEASE;

BIOPSY; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 5; CONSANGUINITY; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FEMALE; FOLLOW-UP STUDIES; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE, SKELETAL; NEUROLOGIC EXAMINATION; PHENOTYPE; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 0036996530     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-37087     Document Type: Article

References (10)

1. Berkovic SF, Andermann F, Carpenters S, Wolfe LS. Progressive myoclonus epilepsies: Specific causes and diagnosis. N Engl J Med 1986; 315: 296-305
2. Coovert DD, Le TT, McAndrew PE et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997; 6: 1205-1214
3. Jankovic J, Rivera VM. Hereditary myoclonus and progressive distal muscular atrophy. Ann Neurol 1979; 6: 227-231
4. Johnson WG, Wigger HJ, Karp HR, Glaubiger LM, Rowland LP. Juvenile muscular atrophy: A new hexosaminidase deficiency phenotype. Ann Neurol 1982; 11: 11-16
5. Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R. Progressive myoclonus epilepsy: A clinical and histopathological study. Acta Neurol Scand 1974; 50: 307-332
6. Lance JW, Evans WA. Progressive myoclonic epilepsy, nerve deafness and spinal muscular atrophy. Clin Exp Neurol 1984; 20: 141-151
7. Marjanovic B, Todorovic S, Dozic S. Association of progressive myoclonic epilepsy and spinal muscular atrophy. Pediatric Neurol 1993; 9: 147-150
8. Merlini L. 90th ENMC International Workshop: European spinal muscular atrophy randomized trial (EuroSMART), 9-10 February 2001, Naarden, The Netherlands. Neromuscul Disord 2002; 12: 201-210
9. Pennachio LA, Lehesjoki AE, Stone NE et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996; 271: 1731-1734
10. Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000; 15: 228-237