Clinical and genetic aspects of spinocerebellar degeneration

Current Opinion in Neurology

Volumn 13, Issue 4, 2000, Pages 407-413

  Durr, Alexandra ^a   Brice, Alexis ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FRIEDREICH ATAXIA; GENETIC HETEROGENEITY; HUMAN; PHENOTYPE; REVIEW; SPASTIC PARESIS; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

FRIEDREICH ATAXIA; GENES, DOMINANT; GENOTYPE; HUMANS; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; SPINOCEREBELLAR DEGENERATIONS;

EID: 0033864227     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200008000-00007     Document Type: Review

References (98)

1. Clinical features and classification of inherited ataxias
2. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
3. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
4. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
5. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
6. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
7. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
8. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
9. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
10. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
11. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12
12. Clinical and molecular advances in autosomal dominant cerebellar ataxias: From genotype to phenotype and physiopathology
13. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
14. Expanded CAG repeat in Swedish spinocerebellar ataxia type 7 (SCA7) patients: Effect of CAG repeat length on the clinical manifestation
15. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
16. Molecular and clinical study of 18 families with ADCA type II: Evidence for genetic heterogeneity and de novo mutation
17. Cognitive deficits in spinocerebellar ataxia 2
18. Spinocerebellar ataxia type 2 in southern Italy: A clinical and molecular study of 30 families
19. Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
20. Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxias type I
21. Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3
22. Autosomal dominant cerebellar ataxia type I: Oculomotor abnormalities in families with SCA1, SCA2, and SCA3
23. Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6
24. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
25. Clinical and MRI findings in spinocerebellar ataxia type 5
26. Are (CTG)n expansions at the SCAB locus rare polymorphisms?
27. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia
28. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22
29. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy
30. Autosomal dominant cerebellar ataxia type III: Linkage of a large British family to a 7.6cM region on chromosome 15q14-21.3
31. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
32. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
33. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations
34. Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes
35. Spinocerebellar ataxias in Spanish patients: Genetic analysis of familial and sporadic cases. The Ataxia Study Group
36. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, 7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia
37. The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates
38. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia
39. Guidelines for the molecular genetics predictive test in Huntington's disease
40. De novo expansion of intermediate alleles in spinocerebellar ataxia 7
41. Protein fate in neurodegenerative proteinopathies: Polyglutamine diseases join the (mis)fold
42. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
43. Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
44. Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)
45. Nuclear inclusions in pinocerebellar ataxia type 1
46. Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: Triple-labeling immunofluorescent study
47. Expanding our understanding of polyglutamine diseases through mouse models
48. Genetic suppression of polyglutarnine toxicity in drosophila
49. Friedreich ataxia: An overview
50. The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia
51. Sticky DNA: Self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia
52. Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
53. Clinical and genetic abnormalities in patients with Friedreich ataxia
54. Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: A retrospective study on 119 patients
55. Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates
56. Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia
57. Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
58. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
59. Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
60. Locus heterogeneity in Friedreich ataxia
61. Friedreich's ataxia with retained tendon reflexes: Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
62. Late onset Friedreich's disease: Clinical features and mapping of mutation to the FRDA locus
63. Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia
64. Autosomal recessive posterior column ataxia and retinitis pigmentosa
65. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
66. Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia
67. Molecular pathogenesis of Friedreich ataxia
68. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
69. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
70. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
71. The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases
72. Increased iron in the dentate nucleus of patients with Friedrich's ataxia
73. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
74. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
75. Clinical heterogeneity of autosomal recessive spastic paraplegias: Analysis of 106 patients in 46 families
76. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p
77. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p
78. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
79. A new locus for autosomal dominant 'pure' hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity
80. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
81. Autosomal dominant spastic paraplegia: Refined SPG8 locus and additional genetic heterogeneity
82. Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q
83. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
84. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
85. Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan
86. A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia
87. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
88. Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2
89. Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family
90. Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia
91. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24
92. CAG repeat expansion in autosomal dominant familial spastic paraparesis: Novel expansion in a subset of patients
93. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2
94. No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24
95. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, nuclear-encoded mitochondrial metalloprotease
96. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
97. Hereditary 'pure' spastic paraplegia: A clinical and genetic study of 22 families
98. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 115-kb ORF