Non-progressive congenital ataxia with cerebellar hypoplasia in three families

Acta Paediatrica, International Journal of Paediatrics

Volumn 94, Issue 2, 2005, Pages 248-253

  Yapici, Z ^a,b   Eraksoy, M ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b NONE   (Turkey)

Author keywords

Cerebellar hypoplasia; Congenital non progressive ataxic syndromes

Indexed keywords

ARTICLE; ATAXIA; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CLINICAL ARTICLE; CONGENITAL NYSTAGMUS; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; FOLLOW UP; HEREDITY; HUMAN; MALE; MENTAL DEFICIENCY; MOTOR DEVELOPMENT; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SIBLING; WALKING;

CEREBELLAR ATAXIA; CEREBELLUM; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 14844293217     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035250410022413     Document Type: Article

References (17)

1. Brett EM. Spinocerebellar degenerations and some related conditions. In: Brett EM, editor. Paediatric neurology. 3rd ed. London: Churchill Livingstone; 1997. p. 229-66.
2. Furman JR, Baloh RW, Chugani H, Waluch V, Bradley WG. Infantile erebellar atrophy. Ann Neurol 1985;17:399-402.
3. Rivier F, Echenne B. Dominantly inherited hypoplasia of the vermis. Neuropediatrics 1992;23:206-8.
4. Steinlin M, Register S, Zangger B, Bolthauser E. Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. Dev Med Child Neurol 1998;40:148-54.
5. Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, et al. Non-progressive autosomal recessive ataxia maps to chromosome 9q34-9 ter in a large consanguineous Lebanese family. Ann Neurol 2001;50:250-3.
6. Ramaekers VT, Heimann G, Reul J, Thron A, Jaeken. J.Genetic disorders and cerebellar structural abnormalities in childhood. Brain 1997;120:1739-51.
7. Jensen PR, Hansen FJ, Skovby F. Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology 1995;37:328-30.
8. Schaefer GB, Thompson JN, Bodensteiner JB, McConnell JM, Kimberling WJ, Gay CT, Dutton WD, Hutchings DC, Gray SB. Hypoplasia of the cerebellar vermis in neurogenetic syndromes. Ann Neurol 1996;39:382-5.
9. Steinlin M, Blaser S, Bolthauser E. Cerebellar involvement in metabolic disorders: a pattern-recognition approach. Neuroradiology 1998;40:347-54.
10. De Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, et al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet 2001;38:14-9.
11. Hagberg B, Hagberg G. The origins of cerebral palsy. In: David TJ, editor. Recent advances in paediatrics XI. Edinburgh: Churchill Livingstone; 0000. p. 67-83.
12. Esscher E, Flodmark O, Hagberg G, Hagberg B. Non-progressive ataxia: Origins, brain pathology and impairments in 78 Swedish children. Dev Med Child Neurol 1996; 38:285-96.
13. Norman RM. Primary degeneration of the granular layer of the cerebellum: an unusual form of familial cerebellar atrophy occurring in early life. Brain 1940;63:365-79.
14. Jervis GA. Early familial cerebellar degeneration of the cerebellum. J Nerv Ment Dis 1950;111:398-107.
15. Imamura S, Tachi N, Oya K. Dominantly inherited early onset non-progressive cerebellar ataxia syndrome. Brain Dev 1993;15:372-6.
16. Guzzetta F, Mercuri E, Bonanno S, Longo M, Spano M. Autosomal recessive congenital cerebellar atrophy. Brain Dev 1993;14:439-45.
17. Patel S, Barkovich J. Analysis and classification of cerebellar malformations. AJNR 2002;23:1074-87.