A fatal case of cerebellar hypoplasia associated with anterior horn cell disease

Genetic Counseling

Volumn 14, Issue 2, 2003, Pages 253-256

  Deda, G ^a   Çaksen, Hüseyin ^b,c   Icagasiglu D ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b YUZUNCU YIL UNIVERSITY   (Turkey)

^c NONE   (Turkey)

Author keywords

Anterior horn cell disease; Cerebellar hypoplasia

Indexed keywords

CREATINE KINASE;

AMYOTROPHIC CEREBELLAR HYPOPLASIA; ANTERIOR HORN CELL DISEASE; ARTICLE; CASE REPORT; CAUSE OF DEATH; CEREBELLUM HYPOPLASIA; CLINICAL FEATURE; DISEASE COURSE; ELECTROMYOGRAM; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; FOLLOW UP; GAIT DISORDER; HUMAN; HUMAN TISSUE; INFECTION; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE ATROPHY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SPEECH DISORDER; TENDON REFLEX;

CEREBELLUM; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MOTOR NEURON DISEASE;

EID: 0038682748     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. BARTH P.G.: Pontocerebellar hypoplasia. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev., 1993, 15, 411-422.
2. DE LEON G.A., GROVER W.D., D'CRUZ C.A.: Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy. Acta Neuropathol., 1984, 63, 282-286.
3. DUBOWITZ V., DANIELS R.J., SUNHARA N., KRASSIKOFF N., CHUN R.W.M.: Infantile spinal muscular atrophy with olivopontocerebellar atrophy. Ann. Neurol., 1985, 18, 402A.
4. GOUTIERES F., AICARDI J., FARKAS E.: Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. J. Neurol. Neurosurg. Psychiatry, 1977, 40, 370-378.
5. KAMOSHITA S., TAKEI Y., MIYAO M., YANAGISAWA M., KOBAYASHI S., SAITO K.: Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease). Pediatr. Pathol., 1990, 10, 133-142.
6. MOERMAN P., BARTH P.G.: Olivopontocerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset. Virch. Arch., 1987, 410, 339-345.
7. NORMAN R.M., KAY J.M.: Cerebello-thalamo-spinal degeneration in infancy. An unusual variant of Werding-Hoffmann disease. Arch. Dis. Child., 1965, 40, 302-308.
8. NORMAN R.M.: Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch. Dis. Child., 1961, 36, 96-101.
9. RUDNIK-SCHÖNEBORN S., WIRTH B., RÖHRIG D., SAULE H., ZERRES K.: Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration. Neuromuscul. Disord., 1995, 5, 19-23.
10. RYAN M.M., COOKE-YARBOROUGH C.M., PROCOPIS P.G., OUVRIER R.A.: Anterior horn cell disease and olivopontocerebellar hypoplasia. Pediatr. Neurol., 2000, 23, 180-184.