Ataxia and Congenital Muscular Dystrophy: The follow-up of a new specific phenotype

Brain and Development

Volumn 23, Issue 2, 2001, Pages 108-114

  Trevisan, Carlo P ^a   Pastorello, Ebe ^a   Tonello, Simone ^a   Armani, Mario ^a   Rigoni, Maria T ^a   Tormene, Alma P ^a   Freda, Maria P ^a   Zortea, Michela ^a   Lombardi, Stefania ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Ataxia; Cerebellar hypoplasia; Congenital Muscular Dystrophy; Merosin positivity; Review

Indexed keywords

CREATINE KINASE; MEROSIN;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CEREBELLUM HYPOPLASIA; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; FOLLOW UP; HUMAN; HUMAN TISSUE; LONGITUDINAL STUDY; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING;

EID: 0035111015     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(01)00187-5     Document Type: Article

References (45)

1. The Peter Emil Becker Award lecture 1998. The saga of congenital muscular dystrophy
2. Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy, 22-24 April 1994, The Netherlands
3. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy
4. Congenital muscular dystrophy: brain alterations in an unselected series of Western patients
5. Brain alterations in the classical form of congenital muscular dystrophy: clinical and neuroimaging follow-up of 12 cases and correlation with expression of merosin in muscle
6. Longitudinal evolution of leucoencephalopathy in congenital muscular dystrophy: data on a heterogeneous series of Western cases
7. Central nervous system involvement in congenital muscular dystrophy
8. Classical (occidental) congenital muscular dystrophy: clinical and pathologic reevaluation
9. Congenital muscular dystrophy and cerebral CT scan anomalies: results of a collaborative study of the Societé de Neurologie Infantile
10. Congenital muscular dystrophy with merosin deficiency
11. Neuroimaging manifestations and classification of congenital muscular dystrophies
12. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities
13. Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy
14. Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging
15. Congenital muscular dystrophy and cerebellar atrophy
16. Human laminin M chain: epitope analysis of its monoclonal antibodies by immunoscreening of cDNA clones and tissue expression
17. Progressive muscular dystrophy with extensive demyelination of the brain
18. Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations
19. Fukuyama type congenital progressive muscular dystrophy
20. Brain MR in Fukuyama congenital muscular dystrophy
21. Fukuyama congenital muscular dystrophy: a neuroradiologic review
22. Muscle-eye and brain disease: a new syndrome
23. Muscle-eye-brain disease (MEB)
24. Muscle-eye-brain disease: a neuropathological study
25. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping
26. Diagnostic criteria for Walker-Warburg syndrome
27. 50th ENMC International Workshop: congenital muscular dystrophy, 28 February to 2 March 1997, Naarden, The Netherlands
28. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
29. Laminin-alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients
30. MRI of the brain in muscle-eye-brain (MEB) disease
31. Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases
32. Laminin in animal models for muscular dystrophy. Defect of laminin-M in skeletal and cardiac muscles and peripheral nerve of the homozygous dystrophic dy/dy mice
33. Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions
34. Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium
35. Congenital muscular dystrophy: clinical and pathologic study of 50 patients with the classical (occidental) merosin-positive form
36. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
37. Merosin expression in muscle of Western cases with Fukuyama-like congenital muscular dystrophy
38. Congenital muscular dystrophy with cerebellar atrophy
39. Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers
40. Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation
41. Merosin-positive congenital muscular dystrophy (CMD), mental retardation and cerebellar hypoplasia: a specific clinical phenotype
42. Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy
43. Alterations of the retino-cortical conduction in patients affected by classical congenital muscular dystrophy with merosin deficiency