Perturbation of precision grip in Friedreich's ataxia and late-onset cerebellar ataxia

1994 ◽  
Vol 9 (6) ◽  
pp. 650-654 ◽  
Author(s):  
Joachim Hermsdöourfer ◽  
Karl Wessel ◽  
Norbert Mai ◽  
Christian Marquardt
Keyword(s):  
Cerebellar Ataxia ◽  
Late Onset ◽  
Precision Grip ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia

scholarly journals Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients

2021 ◽  
Vol 12 ◽  
Author(s):  
Alexander F. Brown ◽  
Michael H. Parkinson ◽  
Hector Garcia-Moreno ◽  
Ese Mudanohwo ◽  
Robyn Labrum ◽  
...  
Keyword(s):  
Late Onset ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Diagnostic Process ◽  
Spinocerebellar Ataxias ◽  
Screening Process ◽  
Group A ◽  
Improve Patient Management ◽  
Group B ◽  
Testing Group

Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process. We aimed to determine FRDA-positive subjects among two cohorts of patients referred to a specialist ataxia centre either for FRDA or SCA testing to determine the proportion of FRDA cases missed in the diagnostic screening process.Methods: 2000 SCA-negative ataxia patients, not previously referred for FRDA testing (group A), were tested for FRDA expansions and mutations. This group was compared with 1768 ataxia patients who had been previously referred for FRDA testing (group B) and were therefore more likely to have a typical presentation. The phenotypes of positive cases were assessed through review of the clinical case notes.Results: Three patients (0.2%) in group A had the FRDA expansion on both alleles, compared with 207 patients (11.7%) in group B. The heterozygous carrier rate across both cohorts was of 41 out of 3,768 cases (1.1%). The size of the expansions in the three FRDA-positive cases in group A was small, and their presentation atypical with late-onset.Conclusions: This study demonstrates that FRDA is very rare among patients who were referred purely for SCA testing without the clinical suspicion of FRDA. Such cases should be referred to specialist ataxia centres for more extensive testing to improve patient management and outcomes.

scholarly journals A Controlled Study of Oral Vigabatrin (ɣ-Vinyl GABA) in Patients with Cerebellar Ataxia

1986 ◽  
Vol 13 (4) ◽  
pp. 331-333 ◽  
Author(s):  
A.M. Bonnet ◽  
M. Esteguy ◽  
G. Tell ◽  
P.J. Schechter ◽  
J. Hardenberg ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Controlled Study ◽  
Olivopontocerebellar Atrophy ◽  
Irreversible Inhibitor ◽  
Double Blind ◽  
Double Blind Placebo ◽  
Significant Difference ◽  
Daily Dose

ABSTRACT:Vigabatrin (ɣ-vinyl GABA; GVG), an irreversible inhibitor of GABA-transaminase, at a daily dose of 2-4 g, and a placebo were each administered orally for 4 months to 14 patients with cerebellar ataxia (9 with Friedreich's ataxia, 5 with olivopontocerebellar atrophy), in a double-blind, placebo-controlled crossover study. For the group as a whole, there was no significant difference between the GVG and placebo periods in any of the parameters of cerebellar symptomatology measured. Individually, one patient showed some improvement after 3 months of treatment with 2 g/day GVG. Tolerance to 4 g/day GVG was poor, whereas 2 g/day was well tolerated. The results suggest that agents which increase central GABA concentrations are not likely to be of benefit to patients with Friedreich's ataxia or olivopontocerebellar atrophy.

scholarly journals The Neuropathology of Late-Onset Friedreich’s Ataxia

2010 ◽  
Vol 10 (1) ◽  
pp. 96-103 ◽  
Author(s):  
Arnulf H. Koeppen ◽  
Jennifer A. Morral ◽  
Rodney D. McComb ◽  
Paul J. Feustel
Keyword(s):  
Late Onset ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia

scholarly journals A Double-Blind Cross-over Trial of Amantadine Hydrochloride in Friedreich's Ataxia

1993 ◽  
Vol 20 (1) ◽  
pp. 52-55 ◽  
Author(s):  
A. Filla ◽  
G. De Michele ◽  
G. Orefice ◽  
F. Santarelli ◽  
L. Trombetta ◽  
...  
Keyword(s):  
Statistical Analysis ◽  
Oral Dose ◽  
Single Oral Dose ◽  
Cerebellar Ataxia ◽  
Autosomal Dominant ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Double Blind

ABSTRACT:We performed a double-blind cross-over study with amantadine hydrochloride in 12 patients with Friedreich's disease and 2 with autosomal dominant cerebellar ataxia. Patients were randomly assigned to a placebo-amantadine or amantadine-placebo sequence. The interval between the treatments was two weeks. Patients were graded according to a functional ataxia scoring scale and videotaped in basal conditions and 90 min after a single oral dose of 100 mg amantadine or placebo. Three evaluators independently scored the videotapes. Statistical analysis showed no significant effect of amantadine in Friedreich's disease.

scholarly journals Evoked Potential Studies in Friedreich's Ataxia and Progressive Early Onset Cerebellar Ataxia

1988 ◽  
Vol 15 (3) ◽  
pp. 292-298 ◽  
Author(s):  
M. Vanasse ◽  
L. Garcia-Larrea ◽  
Ph. Neuschwander ◽  
P. Trouillas ◽  
F. Mauguière
Keyword(s):  
Cerebral Cortex ◽  
Evoked Potentials ◽  
Cerebellar Ataxia ◽  
Conduction Velocity ◽  
Early Onset ◽  
Auditory Evoked Potentials ◽  
Evoked Potential ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Potential Recording

ABSTRACT:We recorded somatosensory evoked potentials (SEP) in 15 patients affected by Friedreich's ataxia (FA) and in 9 patients with progressive early onset cerebellar ataxia (PEOCA). Brainstem auditory evoked potentials (BAEP) were also recorded in 14 FA patients and in five PEOCA patients. SEP results showed clear differences between groups of FA, evidence of peripheral involvement was seen in all patients, with absence of the N9 potential or a major reduction of its amplitude. In patients in whom central responses could be recorded, conduction velocity was normal or near normal up to the brainstem but was reduced from brainstem to cerebral cortex. Four patients with PEOCA had SEP abnormalities similar to those seen in FA. In the five other patients, the amplitude and latency of N9 were normal but conduction velocity was reduced from brainstem to cerebral cortex. In FA, BAEP were abnormal in all patients with a disease duration of four years or more but were normal in four of the five PEOCA patients. Systematic evoked potential recording is useful in the investigation of hereditary ataxias.

Broadened Friedreich's ataxia phenotype after gene cloning: Minimal GAA expansion causes late-onset spastic ataxia

Neurology ◽  
1997 ◽  
Vol 49 (6) ◽  
pp. 1617-1620 ◽  
Author(s):  
M. Ragno ◽  
G. De Michele ◽  
F. Cavalcanti ◽  
L. Pianese ◽  
A. Monticelli ◽  
...  
Keyword(s):  
Gene Cloning ◽  
Late Onset ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Spastic Ataxia ◽  
Gaa Expansion

Very late-onset Friedreich’s ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type

2021 ◽  
Vol 14 (7) ◽  
pp. e242073
Author(s):  
Tushar Ashok Vidhale ◽  
Hemant R Gupta ◽  
Rohan PJ ◽  
Charmi Gandhi
Keyword(s):  
Late Onset ◽  
Cerebellar Atrophy ◽  
Friedreich’S Ataxia ◽  
Left Ventricular ◽  
Friedreich's Ataxia ◽  
Lower Limbs ◽  
Compound Heterozygous ◽  
Truncal Ataxia ◽  
Gaa Repeats ◽  
Whole Spine

This 55-year-old man was admitted to the hospital with an insidious onset, progressive backward fall (due to severe truncal ataxia), dysarthria, stiffness in extremities, distal dominant muscle wasting along with behavioural changes and urinary incontinence. Clinical assessment indicated mild cognitive decline (Mini-Mental State Examination 22/27) with cerebellar, pyramidal and peripheral nerves involvement. On investigations, nerve conduction studies revealed symmetrical, sensorimotor peripheral neuropathy affecting both lower limbs. Brain and whole spine MRI revealed widespread cerebral and mild cerebellar atrophy, pons and medulla volume loss, and a normal spinal cord. Transthoracic echocardiography revealed concentric left ventricular hypertrophy. His gene analysis revealed eight GAA repeats on allele 1, and 37 GAA repeats on allele 2 in the first intron of the frataxin gene. Considering his clinical profile and genetic analysis, he was diagnosed as a case of very late-onset Friedreich’s ataxia with likely compound heterozygous genotype.

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