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Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study.

Computed tomographic (CT) studies in olivopontocerebellar atrophies (OPCA) and 'early onset cerebellar ataxia with retained tendon reflexes (EOCA)' are few and vary widely in methodology and criteria for cerebellar and brainstem atrophy. In this prospective study, CT scan observations on 26 patients (EOCA-11, OPCA-15) were compared with 31 controls using qualitative and quantitative assessment of cisterns, ventricles and atrophy of brain. Vermian and/or cerebellar hemispheric (predominantly anterior) atrophy was present in 80.8% and both were equally common. Cerebral cortical atrophy (26.9%) and leukoariosis (15.4%) were less frequently seen. Statistically significant atrophy of pons, brachium pontis, cerebellum and midbrain was noted in patient group. No significant differences were observed between EOCA and OPCA groups. Evidence of atrophy did not correlate with either the duration of illness or the severity of cerebellar ataxia in both the groups. The severity of brainstem atrophy in 14 patients with and 12 patients without abnormal brainstem auditory evoked response did not differ significantly. This study highlights the methodology of CT evaluation for brainstem and cerebellar atrophy, draws attention to cerebral atrophy and emphasizes the lack of significant differences in CT morphology between OPCA and EOCA patients.

Adolescent↗

Early onset cerebellar ataxia with retained tendon reflexes (EOCA): an electromyographic study.

This prospective study was undertaken to characterize better electrophysiologically the newly described clinical entity of "Early onset cerebellar ataxia with retained tendon reflexes (EOCA)" and compare it with Olivopontocerebellar atrophy (OPCA) and Friedreich's ataxia (FA). Concentric needle electromyography and motor (median, common peroneal and posterior tibial) and sensory (median, sural and posterior tibial) nerve conduction studies were carried out in 14 patients of EOCA. The results were compared with those of 10 and 16 patients of FA and OPCA respectively. All patients of EOCA had either motor or sensory conduction abnormalities, motor being slightly more frequent than sensory (87.7% versus 78.6%). The neuropathy was distal and symmetrical, lacked correlation with duration or clinical stage of the disease, even between patients of the same family. Electrophysiological studies helped to detect subclinical motor and sensory neuropathy in most of the patients. No characteristic electrophysiologic abnormalities separated patients of EOCA from those of OPCA or FA, though the overall incidence of abnormalities was higher in the latter two groups. It is concluded that subclinical peripheral neuropathy is often present in patients of EOCA. The impaired proprioceptive sensation noted among these patients may be due to large fiber neuropathy rather than posterior column involvement alone. A subgroup of them, who have severe sensory neuropathy, may be difficult to differentiate clinically from patients of FA. The clinical entity of EOCA is indistinguishable electrophysiologically from FA and OPCA.

Adolescent↗

Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A comparison with Friedreich's ataxia.

An electrophysiologic and histologic study was performed on 18 patients affected by early onset cerebellar ataxia with retained tendon reflexes (EOCA). Sensory and motor conduction velocity (SCV, MCV) was measured along peripheral nerves in all patients, somatosensory (SSEP) and brainstem auditory evoked potentials (BAEP) were recorded in 13; cortical stimulation (CS) in 12, and sural nerve biopsy in 4 patients were also performed. The results as a whole allow a division of EOCA patients into 2 groups: with (7 patients) and without (11 patients) peripheral neuropathy. Among EOCA patients with neuropathy a differential diagnosis with Friedreich's disease patients was not possible according to BAEPs and CS, while SSEPs could differentiate 2 out 5 patients in whom they were performed.

Adolescent↗

Early onset cerebellar ataxia and preservation of tendon reflexes: clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes.

The aim of this study was to determine phenotypie characteristics of patients with early onset cerebellar ataxia (EOCA) with preserved tendon reflexes. The series comprises 25 patients, representing 10% of all ataxic patients who have been genetically studied in our laboratory since 1990. There were 11 males and 14 females. Fourteen patients were homozygous for the GAA expansion on chromosome 9q13 (group 1) and therefore a diagnosis of Friedreich's ataxia with retained reflexes (FARR) was given. The remaining 11 patients had two normal non-expanded alleles (group 2) and a working diagnosis of EOCA with retained reflexes (EOCARR) was established. Mean ages of onset were 13.7 +/- 5.9 years (3-25) for group 1 and 10.3 +/- 7.3 for group 2; the difference was not significant. Frequencies of symptoms and signs were also comparable for both groups the only significant differences being the higher frequency of nystagmus, cardiomyopathy and sensory neuropathy in group 1 patients. There was a tendency for FARR patients to have higher frequencies of hypopallesthesia in the lower limbs and skeletal deformities. In none of the cases diabetes mellitus was observed. We conclude that differentiation of FARR and EOCARR may be suspected by classical clinical and electrophysiological data and confirmed by analysis of the GAA repeat.

Adolescent↗

Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.

Twenty patients are described with a distinctive clinical syndrome characterised by progressive cerebellar ataxia developing within the first two decades. This is associated with dysarthria, pyramidal signs in the limbs, normal or increased knee jerks and upper limb reflexes and in some instances sensory loss. Inheritance is probably autosomal recessive in the majority, if not all, of the cases. The preservation of tendon reflexes distinguishes this disorder from Friedreich's ataxia. Other important differences from Friedreich's ataxia are absence of optic atrophy, cardiomyopathy, diabetes mellitus and severe skeletal deformity. The prognosis was better in the present series than in cases of Friedreich's ataxia; patients remained ambulant, on average, for more than 10 years longer.

Adolescent↗

Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families.

Spinocerebellar ataxias comprise a poorly understood group of inherited degenerative neurological diseases. Attempts to classify hereditary ataxias on the basis of the neurological features or specific clinical signs such as tendon reflex changes have proven to be unsatisfactory. Early onset cerebellar ataxia (EOCA) is generally inherited as an autosomal-recessive trait. Thus far, we do not have accurate answers to several questions about its classification. However, significant clinical heterogeneity observed in four Tunisian families with typical EOCA clinical features reinforces the hypothesis of genetic heterogeneity underlying this phenotype. We have demonstrated that three of the four families studied were not linked to Friedreich's ataxia (FA), vitamin E deficiency ataxia (AVED), and autosomal dominant cerebellar ataxia (ADCA) loci. The fourth family showed homozygosity for a large pathological expansion of GAA repeat in all patients, the parents being heterozygous for this mutation. We have also noted, in the case of the family studied, that there was instability in the transmission of the mutation, along with a phenomenon of anticipation comparable to that observed in dominant triplet repeat diseases. EOCA is thus clinically indistinguishable from FA, yet genetically independent of all known candidate genes. Genetic mapping is required for research into the causal gene and an understanding of the disease's physiopathologic mechanisms.

Adult↗

Electrophysiological recording of deep tendon reflexes: normative data in children and in adults.

OBJECTIVE: Latency measurement of myoelectric deep tendon (T) reflex responses is not usually performed in EMG laboratories. We investigated the optimal conditions of reliable recording of T reflex in children and adults. METHODS: Two hundred and sixty-eight normal subjects (139 males, 129 females, age rank 2 days-80 years) were studied. T reflexes were recorded from soleus and rectus femoris muscles (children and adults) and from triceps brachialis, biceps brachialis and flexor carpi radialis (adults). Specially devised hammers were used. They were fitted with a spring switch system in order to trigger the trace display on the EMG machine. Distinct technical options for the synchronisation delay assessment were tested. The nerve conduction velocities along reflex pathways were computed by referring the T wave latencies to subject's height. RESULTS: Reliable recordings could be obtained in all cases, with a strong linear correlation of the response latency with height. T reflex conduction velocities increased as the log value of subject age. Normative data from birth to 80 years are provided. CONCLUSION: T reflex recording represents a painless and easily performed technique. It may be helpful for the assessment of proximal conduction velocities, especially in children during maturation of the peripheral nervous system.

Adolescent↗

Electrophysiological recording of tendon reflexes in cervical myelopathy.

Twenty-six patients with unequivocal, clinically and radiologically confirmed cervical myelopathy were investigated electrophysiogically using needle electromyography (EMG), motor and sensory conduction velocity, F-wave latency and the electromyographic recording of the tendon reflexes (TR) of the biceps brachii, brachioradialis and triceps brachii muscles. Normal latency and amplitude values of the reflex evoked compound muscle potentials (T-wave) were calculated from 74 healthy volunteers. Pathological TR were found in 73.1% of the patients, while EMG--which was the next more effective method--was positive in 38.5% of the cases. Eight pathologically delayed T-waves were recorded from muscles with clinically normal or even exaggerated reflexes. TR recording appears to be a useful method in the assessment of segmental functional disturbance in cervical myelopathy.

Adult↗

Measurement of a single tendon reflex in conjunction with a myogram: the second manned Skylab mission.

A generalized hyperreflexia was observed in Skylab 2 crewmembers during the immediate postflight clinical evaluations. Unfortunately, no provisions had been made to quantitate the observed phenomenon. The cause of the hyperreflexia was not readily apparent at the time of the observation. Reflex changes have been noted in several of the Russian cosmonauts after extended spaceflight. Prior to the launch of Skylab 3, it was decided to measure and record a single tendon reflex and, if possible, the associated muscle potential. Duration of the Achilles reflex immediately postflight showed a significant (p greater than 0.01) shortening for all three crewmen. The reflex duration exhibited further significant shortening from preflight values on the fourth day after recovery. At the 16th day measurement, there was a signficant lengthening of the reflex for crewmenber 2 and 3 while crewmember 1 showed some lengthening which was not significant. By 29 d postrecovery, the reflex time of crewmember 1 had returned to his preflight value while the other two crewmen continued to show a significant lengthening of the reflex, although both were showing trends toward their preflight values. The muscle potential intervals were shortened immediately postflight and remained shortened during the 29 d of postflight evaluation. Currently, work is in progress to correlate these findings with other observed anatomical, physical, and biochemical changes. Final conclusions and an in-depth statistical analysis will be presented at a later date.

Adult↗

[Effect of the position of the body in space on the dynamics of tendon reflexes in stroke patients during the rehabilitation period].

Chronometry of Achilles reflexes in 40 healthy subjects and 25 patients in the recovery period after cerebral stroke with regard to body posture showed that in normal subjects the vertical position was associated with a reduced time of the reflectory response whereas in the patients it was increased. It is assumed that a change in the speed of tendon reflexes in different postures is related to the readjustment of suprasegmental and afferent influences on the segmental apparatus of the spinal cord.

Achilles Tendon↗

Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes.

MRI makes it possible to study the in vivo brain and spinal cord morphology of patients with hereditary ataxia. We performed T1- and T2-weighted studies in eleven patients with Friedreich's disease (FD), five with "late onset" FD and ten with early onset cerebellar ataxia with retained tendon reflexes (EOCA). Cervical cord atrophy was constant in FD and "late onset" FD and often associated with atrophy of the cerebellum and of the brainstem; T2-weighted studies showed posterior column degeneration in the cervical cord. The most frequent finding in EOCA was cerebellar atrophy, pure or associated with cervical cord or brainstem atrophy; the cerebellar atrophy was marked in a few cases and was related to disease duration.

Adolescent↗

Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging.

Lower limb areflexia is generally regarded as an essential criterion for the diagnosis of Friedreich's ataxia (FRDA). We describe a family with a recessive form of early-onset ataxia in which one member had a phenotype typical of FRDA whereas another, with retained tendon reflexes in the lower limbs, did not have electrophysiologic evidence of the usual severe afferent axonal neuropathy of FRDA. In contrast, somatosensory evoked potentials, eye-movement recordings, and MRI of the head and cervical cord provided results highly suggestive of FRDA in both patients. We performed genetic linkage analysis in this family, using markers tightly linked to the FRDA locus on chromosome 9. Inheritance of identical paternal and maternal genotypes by the affected members, but not by their unaffected siblings, provided supporting evidence that this disorder may result from mutation within the FRDA gene or is tightly linked to the investigated loci on chromosome 9.

Adult↗