Genetically confirmed spinal muscular atrophy type III with epilepsy, cerebral hypoperfusion, and parahippocampal gyrus atrophy

Clinical Neurology

Volumn 40, Issue 4, 2000, Pages 334-338

  Higashi, K ^a   Nakagawa, M ^a   Higuchi, I ^a   Saito, K ^a   Osame, M ^a  

^a First Department of Internal Medicine   (Japan)

Author keywords

Cerebral hypoperfusion; Epilepsy; Parahippocampal gyrus atrophy; SMN gene defect; Spinal muscular atrophy type III

Indexed keywords

CREATINE KINASE;

ADULT; ARTICLE; BRAIN ATROPHY; BRAIN PERFUSION; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAM; EPILEPSY; FASCICULATION; FEMALE; GAIT DISORDER; GENE DELETION; GENE FUNCTION; GENETIC ANALYSIS; HUMAN; MOTONEURON; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; SENSORY SYSTEM; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPINAL MUSCULAR ATROPHY; SUBICULUM; TEMPORAL LOBE;

ADULT; ATROPHY; BRAIN ISCHEMIA; CEREBROVASCULAR CIRCULATION; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; EPILEPSY; EXONS; FEMALE; GENE DELETION; HUMANS; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PARAHIPPOCAMPAL GYRUS; RNA-BINDING PROTEINS;

EID: 0033827353     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Werdnig-Woffmann disease and variants
2. Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region
3. Identification and characterization of a spinal muscular atrophy-determining gene
4. Is the spinal muscular atrophy gene found?
5. Correlation between severity and SMN protein level in spinal muscular atrophy
6. Genes for SMA: Multum In Parvo
7. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
8. Spinal muscular atrophy with oculomotor palsy, epilepsy, and cerebellar hypoperfusion
9. Association of progressive myoclonic epilepsy and spinal muscular atrophy
10. Clinical features and molecular genetic diagnosis of proximal spinal muscular atrophy in childhood
11. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
12. Wohlfart-Kugelberg-Welander disease
13. Workshop report. International SMA collaboration
14. Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy
15. A study of cell death in Werdnig Hoffmann disease brain