scholarly journals Electroencephalographic Findings in Friedreich's Ataxia and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

1979 ◽  
Vol 6 (2) ◽  
pp. 191-194 ◽  
Author(s):  
R.W. Bouchard ◽  
J.P. Bouchard ◽  
R. Bouchard ◽  
A. Barbeau
Keyword(s):  
Autosomal Recessive ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Hereditary Ataxia ◽  
Subcortical Structures ◽  
Spastic Ataxia ◽  
Eeg Abnormalities ◽  
Severity Of The Disease

SummaryElectroencephalographie studies have heen done in two groups of hereditary ataxia: a group hearing the classical features of Friedreich's ataxia and a group clinically different described as autosomal recessive spastic ataxia of Charlevoix-Saguenay (A RSA CS). The qualitative anomalies observed in the two Ķroups were similar and were comparable with the data reported in the literature. However, the main difference between the two groups is the greater incidence of EEG abnormalities in the A RSA CS group, which suggests more involvement of the cortical and subcortical structures. This is reinforced by the lower I.Q. performance in the latter patients. Some comments are made about focal EEG findings, behavior and I.Q. In general, EEG was not considered a valuable instrument for diagnosis since no qualitative electric pattern could be identified. With regard to prognosis, EEG cannot be used as a criterion, since there is no relation between the degree of anomalies and the severity of the disease and since EEG does not worsen with the progression of the disease.

scholarly journals Electromyography and Nerve Conduction Studies in Friedreich's Ataxia and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

1979 ◽  
Vol 6 (2) ◽  
pp. 185-189 ◽  
Author(s):  
J.P. Bouchard ◽  
A. Barbeau ◽  
R. Bouchard ◽  
R.W. Bouchard
Keyword(s):  
Nerve Conduction ◽  
Autosomal Recessive ◽  
Clinical Signs ◽  
Sensory Nerve ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Nerve Conduction Studies ◽  
Spastic Ataxia ◽  
Group I ◽  
Electrophysiological Studies

SummaryTwenty four ataxie patients were investigated with electromyography and nerve conduction studies. They were divided in two groups according to the area they came from, the evolution of the disease, and the clinical signs. Group I patients from the Rimouski area displayed all the clinical and electrophysiological signs of Friedreich's ataxia. Group II comprised patients who presented with a new syndrome known as the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Although the clinical evolution was better in the latter, there were more electromyographic signs of denervation and the motor conduction velocities were slower. Both groups showed identical and important abnormalities in sensory nerve conduction.The results of electrophysiological studies in spastic ataxia have not been reported to our knowledge. They underline the place of spastic ataxia as distinct f rom Friedreich's ataxia, spastic paraplegia, and the known familial neuropathies.

scholarly journals Future Prospects of Gene Therapy for Friedreich’s Ataxia

2021 ◽  
Vol 22 (4) ◽  
pp. 1815 ◽  
Author(s):  
Gabriel Ocana-Santero ◽  
Javier Díaz-Nido ◽  
Saúl Herranz-Martín
Keyword(s):  
Gene Therapy ◽  
Viral Vectors ◽  
Autosomal Recessive ◽  
State Of The Art ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
First Intron ◽  
Progressive Neurodegeneration ◽  
Feasible Solutions ◽  
Neurogenetic Disease

Friedreich’s ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. The disease is caused by a GAA-expansion in the first intron of the frataxin gene leading to a decreased level of frataxin protein, which results in mitochondrial dysfunction. Currently, there is no effective treatment to delay neurodegeneration in Friedreich’s ataxia. A plausible therapeutic approach is gene therapy. Indeed, Friedreich’s ataxia mouse models have been treated with viral vectors en-coding for either FXN or neurotrophins, such as brain-derived neurotrophic factor showing promising results. Thus, gene therapy is increasingly consolidating as one of the most promising therapies. However, several hurdles have to be overcome, including immunotoxicity and pheno-toxicity. We review the state of the art of gene therapy in Friedreich’s ataxia, addressing the main challenges and the most feasible solutions for them.

scholarly journals Genetic and Family Studies in Friedreich's Ataxia

1976 ◽  
Vol 3 (4) ◽  
pp. 287-301 ◽  
Author(s):  
E. Andermann ◽  
G.M. Remillard ◽  
C. Goyer ◽  
L. Blitzer ◽  
F. Andermann ◽  
...  
Keyword(s):  
Congenital Malformations ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Carrier Detection ◽  
Clinical State ◽  
Ophthalmological Examination ◽  
First Degree Relatives ◽  
Eeg Abnormalities ◽  
Laboratory Examinations ◽  
Detection And Diagnosis

SUMMARY:This study consists of two parts: I. A detailed genetic analysis of 35 sibships in which 58 individuals were affected with Friedreich’s ataxia; and 2. Clinical and laboratory examinations of parents and siblings, in an attempt at carrier detection and diagnosis of the pre-clinical state.The increased parental consanguinity, the lack of affected individuals in other generations, and the lack of significance of extrinsic etiological variables, all suggested an autosomal recessive mode of inheritance, and this was confirmed by formal genetic analyses, employing several different methods.Associated abnormalities in our series of 58 patients included cardiomyopathy (51.7%), diabetes melitus (19.0%), optic atrophy (5.2%), nerve deafness (5.2%) and congenital malformations (6.9%). The incidence of diabetes mellitus. congenital malformations, and epilepsy and lor febrile convulsions was elevated in first degree relatives of patients with Friedreich’s ataxia.Examinations in first degree relatives revealed an increased frequency of neurological and skeletal abnormalities (26.3%). but no abnormalities on neuro-ophthalmological examination. Frequent EMG abnormalities were noted in parents (56.3%). but not in siblings; and these could usually be attributed to extrinsic causes. There was an increased incidence of ECG abnormalities in both parents (50.0%) and siblings (25.0% and some of these abnormalities may represent cardiomyopathy. An increased frequency of EEG abnormalities was also recorded in parents (14.3%) and siblings (27.2%). but these were not specific. None of these examinations resulted in a practicable method of carrier detection or preclinical diagnosis.Since carrier detection is still not feasible, genetic counselling remains the only possible means of prevention of Friedreich’s ataxia.

scholarly journals Amino Acid Changes in the Mouse Mutant Dystonia Musculorum Similar to Those in Friedreich’s Ataxia

1982 ◽  
Vol 9 (2) ◽  
pp. 185-188 ◽  
Author(s):  
A. Messer
Keyword(s):  
Amino Acid ◽  
Experimental Model ◽  
Neurological Disorder ◽  
Autosomal Recessive ◽  
Red Nucleus ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Mouse Mutant ◽  
Sensory Afferents ◽  
Recessive Mutant

SUMMARY:An autosomal recessive mutant strain of mouse with a progressive neurological disorder is described. Histopathology is dramatic in the sensory afferents and in the red nucleus. In the cerebellar vermis the concentrations of glutamate, aspartate, glycine and GABA are significantly reduced, and in the cerebellar hemispheres the taurine/glutamate ratio is elevated. These mice may provide a useful experimental model of Friedreich’s ataxia.

scholarly journals Plasma Lipids and Lipoproteins in Friedreich's Ataxia and Familial Spastic Ataxia — Evidence for an Abnormal Composition of High Density Lipoproteins

1978 ◽  
Vol 5 (1) ◽  
pp. 149-156 ◽  
Author(s):  
Y. S. Huang ◽  
A. C. Nestruck ◽  
A. Barbeau ◽  
J. P. Bouchard ◽  
J. Davignon
Keyword(s):  
Plasma Lipids ◽  
Relative Proportion ◽  
Electrophoretic Pattern ◽  
Density Lipoprotein ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
High Density ◽  
High Density Lipoproteins ◽  
Spastic Ataxia ◽  
Lipids And Lipoproteins

SUMMARY:A systematic study of plasma lipids and lipoproteins was carried out in II cases of Friedreich's ataxia and 6 cases of familial spastic ataxia (Charlevoix-Saguenay disease) using II healthy normolipidemic volunteers of comparable age and sex as controls. No differences were noted in the fatty acid profile of the total lipid fraction, in the total cholesterol and phospholipids or in the percentage distribution of the individual phospholipid classes. The triglycerides were significantly higher in Friedreich's ataxia, but remained within the normal range. Although no systematic abnormalities could be detected in the electrophoretic pattern of plasma lipoproteins or in the apolipoprotein profile on polyacrylamide gel electrophoresis, major differences were found in the high density lipoprotein (HDL) fraction. Their total amount was reduced and their composition was abnormal in both neurological diseases. In Friedreich patients, the relative proportion of cholesterol and triglycerides was increased while the relative protein content was greatly reduced. In Charlevoix disease, a similar abnormality was seen except for the excess of triglycerides. The proportion of phospholipids in HDL was the same in the three groups of patients. In addition, the low density lipoprotein (LDL) fraction was slightly reduced in both diseases. This anomaly of the HDL fraction could indicate that the HDL apolipoprotein moiety has a greater affinity for cholesterol and triglycerides in Friedreich's ataxia than its normal counterpart.

scholarly journals Friedreich’s Ataxia With Nephrotic Syndrome and Convulsive Disorder: Clinical and Neurophysiological Studies With Renal and Nerve Biopsies and An Autopsy

1981 ◽  
Vol 8 (1) ◽  
pp. 55-60 ◽  
Author(s):  
G.V. Watters ◽  
S.H. Zlotkin ◽  
B.S. Kaplan ◽  
P. Humphreys ◽  
K.N. Drummond
Keyword(s):  
Nephrotic Syndrome ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
High Dose ◽  
Eeg Abnormalities ◽  
Progressive Ataxia ◽  
Neurophysiological Studies ◽  
Dose Prednisone ◽  
Minimal Lesion Nephrotic Syndrome ◽  
Spike Wave

SUMMARYIn a sibship of four, Friedreich’s ataxia and minimal lesion nephrotic syndrome occurred in two siblings, a third sibling had Friedreich’s ataxia, but no evidence of nephrotic syndrome; the fourth sibling had neither condition. The chance of Friedreich’s ataxia and minimal lesion nephrotic syndrome occurring in two siblings is small, and suggested a common immunological abnormality. High dose prednisone and antimetabolites given for the nephrotic syndrome did not appear to affect the course of Friedreich’s ataxia.The two siblings with Friedreich’s ataxia and nephrotic syndrome developed epilepsy at age 15 years. All three children with Friedreich’s ataxia had abnormal electroencephalograms (EEGs). These epileptiform EEG abnormalities were probably inherited from the mother, who had spike wave epilepsy. The neurologic deficits of Friedreich’s ataxia, in turn, may have allowed the EEG trait to be expressed as a seizure disorder. The progressive ataxia and epileptic, sometimes myoclonic, seizures in these patients and the dentate nucleus changes in the autopsied patient were consistent with the diagnosis of dyssynergia cerebellaris myoclonica. This suggested that the latter disorder may represent a coincidence of two genetic entities: Friedreich’s ataxia and spike wave epilepsy.

scholarly journals A Possible Genetic Pattern of Taurine Urinary Excretion in Friedreich’s Ataxia

1982 ◽  
Vol 9 (2) ◽  
pp. 209-215 ◽  
Author(s):  
A. Barbeau ◽  
F. Patenaude ◽  
G. Nadon ◽  
M. Charbonneau ◽  
T. Cloutier
Keyword(s):  
Urinary Excretion ◽  
Autosomal Recessive ◽  
Genetic Defect ◽  
High Capacity ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Uptake System ◽  
Genetic Pattern ◽  
Before And After ◽  
Normal Controls

SUMMARY:The taurine urinary excretion pattern, before and after an oral load of 250 mg taurine, was studied in normal control subjects and in patients with typical Friedreich’s ataxia. It was demonstrated that in both situations the ataxic patients fell within the sub-types of “intermediate” and “high taurine excretors”, while none were “low taurine excretors”. It was also demonstrated that the excretion of taurine after a load in the obligate heterozygotes parents of the ataxic patients was intermediate between normal controls and patients. It is postulated that patients with Friedreich’s Ataxia lack normal regulation of the high affinity-low capacity uptake system for taurine (the TH system) in the brush border of kidney tubules. The low affinity-high capacity uptake system in the same membranes (the TL system) appears to be normal in Friedreich’s patients. The normal allele could be called THN and the variant THF and this trait would be inherited in an autosomal recessive fashion if it is linked to the Freidreich phenotype. Whether this finding is or is not the basic genetic defect in Friedreich’s Ataxia will require more studies to clarify, but it is of interest to note that a similar pattern appears to be present in the fibroblasts of these patients.

scholarly journals Electroencephalographic Findings in Friedreich's Ataxia

1976 ◽  
Vol 3 (4) ◽  
pp. 309-312 ◽  
Author(s):  
G. Remillard ◽  
F. Andermann ◽  
L. Blitzer ◽  
E. Andermann
Keyword(s):  
Brain Stem ◽  
Epileptic Seizures ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Comparative Data ◽  
Photic Stimulation ◽  
Inhibitory Mechanism ◽  
Spinal Disorder ◽  
Intermittent Photic Stimulation ◽  
Severity Of The Disease

SUMMARY:Electroencephalographic tracings of 50 patients who presented the classical features of Friedreich’s ataxia were reviewed. Mild nonspecific abnormalities were found in 33% and consisted of:a) Abnormal slow or irregular background rhythms in 15 patients (30%).b) Intermittent paroxysmal rhythms, considered to be projected from diencephalic or upper midbrain structures, in 4 patients (8%).c) Unilaterally absent driving responses in 2 affected siblings (4%).There was no response to intermittent photic stimulation in 60% of the patients. This finding is not considered a definite abnormality, and its significance remains unclear.Four patients (8%) had epileptic seizures, but of these only two had interictal epileptic abnormalities.There was no correlation between the duration and severity of the disease and the presence of electroencephalographic abnormalities.Friedreich’s ataxia is mainly a spinal disorder. Involvement of supraspinal and in particular brain stem or diencephalic structures may be more extensive in those patients who show electrographic abnormalities. This would require confirmation with comparative data based on pathological observations.Impaired function of brain stem inhibitory mechanism may be responsible for the slightly raised incidence of seizures in patients with Friedreich’s ataxia and other cerebellar degenerations.

scholarly journals Computed Tomography of Posterior Fossa in Hereditary Ataxias

1979 ◽  
Vol 6 (2) ◽  
pp. 195-198 ◽  
Author(s):  
R. Langelier ◽  
J.P. Bouchard ◽  
R.B Ouchard
Keyword(s):  
Computed Tomography ◽  
Central Nervous System ◽  
Nervous System ◽  
Posterior Fossa ◽  
Autosomal Recessive ◽  
Cerebellar Atrophy ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Hereditary Ataxias ◽  
The Central Nervous System

SummaryNine cases of Friedreich's ataxia and seven cases of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) were submitted to neuroradiological procedures to determine the extent of atrophie processes in the central nervous system. All cases had a computerized cerebral tomography and five were studied with pneumencephalo-graphy. The results show a correlation between the two tests and the comparison between Friedreich's ataxia and ARS ACS.In Friedreich's ataxia, the radiological signs are variable and discrete in most of the cases. In A RSA CS there are constant signs of cerebellar atrophy almost limited to the superior parts of the vermis and anterior lobes.

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