Cerebellar vermis hypoplasia - Non progressive congenital ataxia: Clinical and radiological findings in a pair of siblings

Arquivos de Neuro-Psiquiatria

Volumn 58, Issue 3 B, 2000, Pages 897-900

  Bruck, Isac ^a   Antoniuk, Sérgio A ^b   De Carvalho Neto, Arnolfo ^b   Spessatto, Adriane ^b  

^a CENEP   (Brazil)

^b NONE

Author keywords

Cerebellar vermis hypoplasia; Non progressive congenital ataxia; Ocular motor abnormalities

Indexed keywords

ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM; CHILD; CONGENITAL MALFORMATION; HUMAN; MALE; NUCLEAR FAMILY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD;

CEREBELLAR ATAXIA; CEREBELLUM; CHILD; CHILD, PRESCHOOL; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NUCLEAR FAMILY; PHENOTYPE;

EID: 0034277185     PISSN: 0004282X     EISSN: None     Source Type: Journal    
DOI: 10.1590/S0004-282X2000000500016     Document Type: Article

References (23)

1. Malamud N, Cohen P. Unusual form of cerebellar ataxia with sex linked inheritance. Neurology 1958;8:261-266.
2. Pfeiffer RA, Palm D, Jünemann G, Mandl-Kramer S, Heimann E. Nosology of congenital non-progressive cerebellar ataxia. Neuropädiatrie 1974;5:91-102.
3. Furman JM, Baloh RW, Chugani H, Waluch V, Bradley WG. Infantile cerebellar atrophy. Ann Neurol 1984;17:399-402.
4. Wichman A, Frank LM, Kelly TE. Autosomal recessive congenital cerebellar hypoplasia. Clin Genet 1985;27:373-282.
5. Tomiwa K, Baraitser M, Wilson J. Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis. Pediatr Neurol 1987;3:360-362 .
6. Young ID, Moore JR, Tripp JH. Sex-linked recessive congenital ataxia. J Neurol Neurosurg Psychiatry 1987;50:1230-1232.
7. Fenichel GM, Phillips JA. Familial aplasia of the cerebellar vermis. Arch Neurol 1989;46:582-583.
8. Mathews KD, Afifi AK, Hanson JW. Autosomal recessive cerebellar hypoplasia. J Child Neurol 1989;4:189-193.
9. Kornberg AJ, Shield LK. An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxic syndrome. J Child Neurol, 1991;6:20-23.
10. Rivier F, Echenne B. Dominantly inherited hypoplasia of the vermis. Neuropediatrics 1992;23:206-208.
11. Guzetta F, Mercuri E, Bonanno S, Longo M, Spano M. Autosomal recessive congenital cerebellar atrophy: a clinical and neuropsychological study. Brain Develop 1993;15:439-445.
12. Imamura S, Tachi N, Oya K. Dominantly inherited early-onset non-progressive cerebellar ataxic syndrome. Brain Develop 1993;15:372-376.
13. Al Shawan SA, Bruyn GW, Al Deeb SM. Non-progressive congenital cerebellar hypoplasia. J Neurol Sci. 1995;128:71-77.
14. 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;38:285-296.
15. Steinlin M, Zangger B, Boltshauser E. Non-progressive congenital ataxia with or without cerebellar hypoplasia:a review of 34 subjects. Dev Med Child Neurol 1998;40:148-154.
16. Dooley JM, Laroche GR, Tremblay F, Riding M. Autosomal recessive cerebellar hypoplasia and tapetoretinal degeneration: a new syndrome. Pediatr Neurol 1992;8:232-234.
17. Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992;43: 726-731.
18. Maria BL, Hoang KBN, Tusa RJ, et al. "Joubert's syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423-430.
19. Shen W-C, Shian W-J, Chen C-C, Chi C-S, Lee S-K, Lee K-R. MRI of Joubert's syndrome. Eur J Radiol 1994;18:30-33.
20. Sztriha L, Al-Gazali LI, Aithala GR, Nork M. Joubert's syndrome: new cases and review of clinicopathologic correlation. Pediatr Neurol 1999;20:274-281
21. Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999;14:583-591.
22. Raynes HR, Shanske A, Goldberg S, Burde R, Rapin I. Joubert syndrome: monozygotic twins with discordant phenotypes. J Child Neurol 1999;14:649-654.
23. Chance PF, Cavalier L, Jatrand et al. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999;14:660-666.