Congenital ataxias of genetic origin with structural anomalies of the cerebellum;Ataxias congenitas de origen genetico con anomalias estructurales del cerebelo

Revista de Neurologia

Volumn 28, Issue 1, 1999, Pages 63-68

  Bertini, E ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Congenital ataxia; Genetics; Pontoneocerebellar hypoplasia

Indexed keywords

CEREBELLAR ATAXIA; CEREBELLUM; CHROMOSOME TRANSLOCATION 22; COGAN SYNDROME; DANDY WALKER SYNDROME; GENETIC LINKAGE; HUMAN; HYPOPLASIA; JOUBERT SYNDROME; PATHOGENESIS; REVIEW; SYNDROME; TRISOMY; ATAXIA; CEREBELLUM DISEASE; CONGENITAL MALFORMATION; GENETICS;

ATAXIA; CEREBELLAR DISEASES; CEREBELLUM; HUMANS; SYNDROME;

EID: 0032613067     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.2801.98351     Document Type: Review

References (5)

1. MacDonald EA, Holden JJ. Duplication 12q24-qter in an infant with Dandy-Walker syndrome. J Neurogenet 1985; 2: 123-9.
2. Pascual-Castroviejo I, Gutiérrez M, Morales C, González-Mediero I, Martínez-Bermejo A, Pascual-Pascual SI. Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature. Neuropediatrics 1994; 25: 183-90.
3. Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 1996; 5: 525-31.
4. Abs R, van Vlcymen E, Parizel PM, van Acker K, Martin M, Martin JJ. Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism. J Neurol Sci 1990; 98: 259-65.
5. Berciano J, Amado JA, Freijanes J, Rebollo M, Vaquera A. Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency. J Neurol Neurosurg Psychiatry 1982; 45: 747-51.