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Friedreich ataxia.
Pandolfo M. Pandolfo M. Semin Pediatr Neurol. 2003 Sep;10(3):163-72. doi: 10.1016/s1071-9091(03)00025-1. Semin Pediatr Neurol. 2003. PMID: 14653404 Review.
There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was identified in 1996. ...Also, the phenotype associated with the FA mutation is much wider than that defined by clinical criteria and includes …
There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was …
Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Parkinson MH, et al. J Neurochem. 2013 Aug;126 Suppl 1:103-17. doi: 10.1111/jnc.12317. J Neurochem. 2013. PMID: 23859346 Free article. Review.
Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late-onset cases tend to have slower progression and are associated with smaller GAA expansions. ...I …
Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features su …
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia with retained t …
This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (est …
Friedreich's ataxia: clinical aspects and pathogenesis.
Pandolfo M. Pandolfo M. Semin Neurol. 1999;19(3):311-21. doi: 10.1055/s-2008-1040847. Semin Neurol. 1999. PMID: 12194387 Review.
Friedreich's ataxia is the most frequent inherited ataxia in Caucasians. ...Molecular testing has shown that the phenotypic spectrum of Friedreich's ataxia is wider than previously thought. Up to 10% of patients with recessive or sporadic degene …
Friedreich's ataxia is the most frequent inherited ataxia in Caucasians. ...Molecular testing has shown that the phenot …
Other autosomal recessive and childhood ataxias.
De Michele G, Filla A. De Michele G, et al. Handb Clin Neurol. 2012;103:343-57. doi: 10.1016/B978-0-444-51892-7.00021-8. Handb Clin Neurol. 2012. PMID: 21827899 Review.
The label of "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA) has been created to differentiate it from Friedreich ataxia (FRDA) patients with preserved knee jerks and absence of cardiomyopathy, optic atrophy, and diabetes me …
The label of "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA) has been created to differentiate it …
Magnetic resonance imaging in degenerative ataxic disorders.
Ormerod IE, Harding AE, Miller DH, Johnson G, MacManus D, du Boulay EP, Kendall BE, Moseley IF, McDonald WI. Ormerod IE, et al. J Neurol Neurosurg Psychiatry. 1994 Jan;57(1):51-7. doi: 10.1136/jnnp.57.1.51. J Neurol Neurosurg Psychiatry. 1994. PMID: 8301305 Free PMC article. Review.
Atrophy of intracranial structures was not seen in patients with the pure type of hereditary spastic paraplegia, or in early cases of Friedreich's ataxia. In advanced Friedreich's ataxia there was atrophy of the vermis and medulla. The MRI features of …
Atrophy of intracranial structures was not seen in patients with the pure type of hereditary spastic paraplegia, or in early cases of Fri …
[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology].
Espinós-Armero C, González-Cabo P, Palau-Martínez F. Espinós-Armero C, et al. Rev Neurol. 2005 Oct 1-15;41(7):409-22. Rev Neurol. 2005. PMID: 16193447 Free article. Review. Spanish.
Based on pathogenic mechanisms five main types may be distinguished: congenital (developmental disorder), mitochondrial ataxias, ataxias associated with metabolic disorders, ataxias with a DNA repair defect, and degenerative ataxia with unknown pathogenesis. The most frequ …
Based on pathogenic mechanisms five main types may be distinguished: congenital (developmental disorder), mitochondrial ataxias, ataxias ass …
Classifications of hereditary ataxias. A critical overview.
Campanella G, Filla A, De Michele G. Campanella G, et al. Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):408-19. Acta Neurol (Napoli). 1992. PMID: 1293984 Review.
Some exceptions must be considered for the diagnostic criteria of Friedreich's disease. Early Onset Cerebellar Ataxia with retained tendon reflexes (EOCA) is probably a heterogeneous entity....
Some exceptions must be considered for the diagnostic criteria of Friedreich's disease. Early Onset Cerebellar Ataxia with …
Early onset hereditary ataxias of unknown etiology. Review of a personal series.
Filla A, De Michele G, Barbieri F, Campanella G. Filla A, et al. Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):420-30. Acta Neurol (Napoli). 1992. PMID: 1293985 Review.
Among 300 patients affected by hereditary ataxia, 94 received the diagnosis of Friedreich's disease, 12 of Late Onset Friedreich's disease, 27 of Early Onset Cerebellar Ataxia with retained tendon reflexes, 10 of Progressive Myoclonic …
Among 300 patients affected by hereditary ataxia, 94 received the diagnosis of Friedreich's disease, 12 of Late Onset Fried …
[Computerized tomography in the study of degenerative ataxia].
De Michele G, Filla A, Mansi E, Delehaye L, Cirillo S, Di Geronimo G, Geri G, Campanella G. De Michele G, et al. Riv Neurol. 1987 Nov-Dec;57(6):323-7. Riv Neurol. 1987. PMID: 3330622 Review. Italian.
We describe the computerized tomography findings in 85 patients affected with degenerative ataxias. Cerebellar atrophy was moderate in patients with Friedreich's disease (no. 28) and early onset cerebellar ataxia with retained reflexes (no. 10) and, in …
We describe the computerized tomography findings in 85 patients affected with degenerative ataxias. Cerebellar atrophy was moderate in patie …