Spinocerebellar ataxia part I. Diagnostic advances and problems

Ceska a Slovenska Neurologie a Neurochirurgie

Volumn 64, Issue 5, 2001, Pages 259-267

  Zumrova A ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

Hereditary ataxias; Hereditary metabolis disorders; Spinocerebellar ataxias

Indexed keywords

CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; HUMAN; METABOLIC DISORDER; MOLECULAR GENETICS; REVIEW; SPINOCEREBELLAR DEGENERATION; SYNDROME;

EID: 0034799123     PISSN: 12107859     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (42)

1. Über degenerative Atrophie der spinalen Hinterstränge
2. Sur l'hérédoataxie cérébelleuse
3. Ataxia-without-teleangiectasia in two sisters with rearrangements of chromosomes 7 and 14
4. Unusual features in the inheritance of ataxia telangiectasia
5. A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
6. Peripheral and central myelinopathy in Cockayne's syndrome: Report of 3 siblings
7. Cockayne syndrome: An atypical case
8. Hereditary congenital spinocerebellar ataxia combined with congenital cataract and oligophrenia
9. Cerebellar ataxia, congenital cataracts and retarded somatic and mental maturation: Report of cases of Marinesco-Sjögren syndrome
10. Marinesco-Sjögren syndrome with rhabdomyolysis: A new subtype of the disease
11. The molecular genetic bases of the progressive myoclonus epilepsies
12. A dominant form of neuronal ceroid-lipofuscinosis
13. Neuronal ceroid-lipofuscinosis (Batten's disease): Relationship to amaurotic familial idiocy
14. Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5
15. Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms
16. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis
17. Genetic mitochondrial disorders
18. Mitochondrial myopathies and encephalomyopathies
19. Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia
20. Clinical and genetic abnormalities in patients with Friedreich's ataxia
21. Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
22. Friedreich ataxia: An overview
23. Infantile onset spinocerebellar ataxia with sensory neuropathy: A new inherited disease
24. Toward cloning of a novel ataxia gene: Refined assignment and physical map of the IOSCA locus (SCA8) on 10q24
25. Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency
26. Adult form of metachromatic leukodystrophy: Clinical and biochemical approach
27. Symptomatology of late onset Krabbe's leukodystrophy: The European experience
28. Late onset globoid cell leukodystrophy (Krabbe's disease) - Swedish case with 15 years of follow-up
29. Sphingomyelin lipidoses: Niemann-Pick disease
30. Niemann-Pick disease (variation in the sphingomyelinase deficient group): Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings
31. Clinical spectrum of Niemann-Pick disease type C
32. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
33. Chronic GM(2) gangliosidosis masquerading as atypical Friedreich ataxia: Clinical, morphologic and biochemical studies of nine cases
34. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa
35. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein
36. Spinocerebellar degeneration secondary to chronic intestinal malabsorption: A vitamin E deficiency syndrome
37. Early onset cerebellar ataxia with retained tendon reflexes: A clinical and genetic study of a disorder distinct from Friedreich's ataxia
38. Early onset cerebellar ataxia with retained tendon reflexes: Prevalence and gene frequency in an Italian population
39. Early-onset cerebellar ataxia (EOCA) with retained reflexes: Reduced cerebellar benzodiazepine-receptor binding, progressive metabolic and cognitive impairment
40. Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy
41. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
42. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11