Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family is described in which a mother and three of her five children showed myoclonic epilepsy. The mother and one son were also ataxic; one other son had additional features of Friedreich's ataxia, and a daughter had peroneal muscular atrophy as well as myoclonic epilepsy and ataxia. Although some of these disorders have been associated in previously reported families, the occurrence of all three disorders in members of one family seems to be unique. It is concluded that this family shows the manifestations of one, probably dominant, gene. The differences in age of onset and manifestations may be explained by the action of one or more subsidiary genes.
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PMID:Familial myoclonic epilepsy with ataxia and neuropathy with additional features of Friedreich's ataxia and peroneal muscular atrophy. 10 Dec 80

Charcot-Marie-Tooth disease (peroneal muscular atrophy) has been reported to cause cardiac arrthymias and conduction disturbances in association with peripheral muscle atrophy. To establish more accurately the frequency of such cardiac disorders in this disease, 68 patients with Charcot-Marie-Tooth disease were evaluated prospectively for evidence of cardiac involvement. Cardiac findings were limited to five patients with conduction defects, two patients with supraventricular tachycardia, two patients with ischemic heart disease, and 20 with mitral valve prolapse. The frequency of each of the abnormal cardiac findings, with the possibly emalities in the population at large. The low incidence of cardiac involvement in patients with Charcot-Marie-Tooth disease may be helpful in distinguishing this disorder from Friedreich's ataxia, an entity that may mimic Charcot-Marie-Tooth disease but that is frequently associated with heart disease.
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PMID:Cardiac findings in Charcot-Marie-Tooth disease. A prospective study of 68 patients. 48 49

The mean percentage of linoleate to total fatty acids in phosphatidylcholine and lysophosphatidylcholine fractions of serum phospholipids from neuropathic patients with HMN (hereditary motor neuropathy, also called distal type of progressive muscular atrophy), HMSN-I and HMSN-II (two types of peroneal muscular atrophy), and FA (Friedreich's ataxia) was reduced by approximately 10--20% (P less than 0.001). On the other hand, the mean percentage of nervonic acid in sphingomyelin was elevated by 9--20%. No significant difference was observed in phosphatidylethanolamine between neuropathic patients and control subjects. The mean concentration of phosphatidylcholine and sphingomyelin was also significantly reduced in neuropathic patients (except in HMN and HMSN-III). A significant correlation between endogenous 2-linoleoyl-sn-glycerol-3-phosphocholine and cholesteryl linoleate synthesis in vitro suggests that the decreased activity of phosphatidylcholine acyltransferase (EC 2.3.1.43; LCAT) in neuropathic patients is influenced by the fatty acid composition of their lipoprotein substrate. Furthermore, the reduction of phosphatidylcholine and of cholesteryl linoleate synthesis in vitro in neuropathic patients was affected by age and sex. It is unlikely that the reduced linoleate level in serum phosphatidylcholine for most, possibly all, of the inherited neuropathies studied here reflects a specific biochemical disorder. Possibly it reflects a more generalized biochemical alteration common to inherited neuropathy. One possibility is that biosynthesis of new membrane in axonal regeneration, segmental remyelination and Schwann cell hyperplasia may reduce the serum linoleate pool.
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PMID:Lipid abnormalities in hereditary neuropathy. Part 2. Serum phospholipids. 65 Feb 57

Cranial CT in 39 patients (23 belonged to 8 families) with four different groups of hereditary ataxia (HA) showed mainly three combinations of atrophic findings: (1) cerebellar ataxia (CA, n = 17) had marked atrophy of the cerebellum and/or the brain stem combined with moderate cerebral atrophy; (2) an intermediate group consisting of hereditary spastic paraplegia (HSP, n = 10) and Friedreich's ataxia (FA, n = 7), both with moderate infra- and supratentorial atrophy; (3) atrophy was hardly demonstrated in the group of Charcot-Marie-Tooth disease (CMT, n = 5). HA cases with atrophy could be distinguished from multiple sclerosis (MS) by CT.
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PMID:Computed tomography in hereditary ataxias. 74 5

This study presents the findings from a neuroradiological investigation of the cervical spinal canal in a number of diseases of the nervous system. It concerns the measurement of the sagittal and transversal diameters of the spinal canal at levels C3 through C6. The material for this investigation was made up of two main groups: A) 400 controls and B) 110 patients. The second group consisted of the following: 1) 20 patients suffering from Friedreich's Ataxia, 2) 14 patients with Steinert's disease, 3) 44 patients with lateral amyotrophic sclerosis, 4) 14 patients suffering from Charcot-Marie-Tooth's disease, and 5) 18 patients with muscular dystrophy. The results are as follow: 1) In patients with Friedreich's Ataxia both the sagittal and transversal diameters are smaller than those of the controls. 2) On the contrary, in Charcot-Marie-Tooth's disease the sagittal diameter is larger than the controls. 3) The transversal diameter in patients with muscular dystrophy is smaller than the controls and 4) the sagittal diameter of the vertebral canal decreases from the top (C3) downwards (C6) while the transversal diameter increases.
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PMID:[Radiological study of the cervical spinal column in some neurological degenerative diseases (author's transl)]. 85 12

A study of 7 cases of Charcot-Marie-Tooth disease associated with a dyskinesia resembling benign essential tremor is presented. In 4 patients, the family history strongly suggested an autosomal mode of transmission, 2 cases were sporadic without an established genetic pattern and 1 was probably recessive. The distal parts of the upper and lower limbs showed imparied muscle strength with slight or no atrophy in 4 patients and conspicuous weakness and wasting in another 2. One patient was a chairbound. Although essential tremor and the tremor seen in these patients are clinically (phenotypically) similar it seems possible that they result from two different genotypes. Further, it seems that cases with Charcot-Marie-Tooth disease and "essential tremor" are not the result of the association of two separate dominant characteristics which are generally inherited as mendelian dominant traits. In spite of the diversity of the clinical manifestations of the peripheral neuropathy, the semiologically different types of essential tremor and the electrophysiological data, it is concluded that patients who develop a peripheral neuropathy on a familial basis and who exhibit clinical features of similar character, suffer from a common type of pathological disorder. Stress is laid upon the fact that Friedreich's ataxia and Charcot-Marie-Tooth disease share many clinical features. It is suggested that when Friedreich's ataxia and Charcot-Marie-Tooth disease seem to be present in the same individual and/or alternate in different members of the same family, the process is likely to be one of Charcot-Marie-Tooth disease. The value of the type of inheritance, natural history, clinical examination and electrophysiological data in differentiating Charcot-Marie-Tooth disease (with or without essential tremor) from other degenerative disorders is analyzed.
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PMID:Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature. 93 72

Much confusion and disagreement exists regarding the classification and characteristics of inherited disorders manifesting neurogenic muscular atrophy. Many authors consider Charcot-Marie-Tooth syndrome (CMTS) and Roussy Levy syndrome (RLS) forme fruste or variants of Friedreich's ataxia (FA). Familial kyphoscoliosis has often been described in FA and RLS but not with CMTS. The purpose of this paper is to present detailed clinical and laboratory findings in a family with three cases of Scheuermann's kyphoscoliosis and CMTS in three generations. In all cases Scheuermann's kyphoscoliosis was associated with pes cavus, markedly diminished vibratory and position sensation in the lower extremities, absent deep tendon reflexes and muscular atrophy, predominantly of the distal muscles. Fine rhythmic tremor of outstretched hands and positive Romberg sign were present in one case only. Serum creating phosphokinase was elevated in two cases. Motor nerve conduction studies revealed impaired function in the median, ulnar, tibial and peroneal nerves. Sensory nerve conduction wal also impaired in median and ulnar nerves. There was evidence of left ventricular hypertrophy in one case only. The nosology and relationship between CMTS, RLS and FA are discussed.
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PMID:Scheuermann's kyphoscoliosis associated with Charcot-Marie-Tooth syndrome. 94 37

Children with progressive neurological conditions such as spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia (Riley-Day syndrome), and Charcot-Marie-Tooth disease have a significant risk of acquiring a serious spinal deformity. As with paralytic scoliosis following poliomyelitis, the curves are difficult to control with bracing, and progression does not cease with maturation. An increasing spinal curvature may lead to loss of ambulation or, for the wheelchair-bound patient, loss of sitting balance. The curvature may further compromise pulmonary function that may already be compromised by the neurological deficit. Twenty patients are reported with an average follow-up of six years (range, one to fourteen years). For the properly selected patient, surgical stabilization of the spine arrested the progress of the curve and improved function. Complications were few; however, pseudarthrosis was more common than in patients with non-neurological problems.
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PMID:Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia, and Charcot-Marie-Tooth disease. 124

The cross-sectional areas of the peroneal and anterior muscle compartments at the same level in the upper leg were measured using magnetic resonance imaging in 41 cases of forefoot pes cavus. The pes cavus group included idiopathic cases and pes cavus associated with Charcot-Marie-Tooth disease, Friedreich's ataxia, cerebral palsy, status postpoliomyelitis, nerve trauma, and spinal cord tethering. Thirty-nine of these cases were symptomatic. The results were compared with studies of 11 normal controls. It was found that in the majority of cases of forefoot cavus, the peroneal compartment was enlarged relative to the anterior compartment when compared with the normal controls. Biopsies of the tibialis anterior and peroneus longus muscles in 18 patients with forefoot pes cavus showed that any relative expansion of the peroneus longus was not due to pseudohypertrophy. Overaction of the peroneus longus in comparison to its antagonist the tibialis anterior is proposed as an important factor in the pathogenesis of the majority of symptomatic cases of forefoot pes cavus.
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PMID:Investigation of muscle imbalance in the leg in symptomatic forefoot pes cavus: a multidisciplinary study. 147 77

Based on the hereditary ataxias concepts and a large field survey, the authors analyzed 392 cases of spino-cerebellar degeneration belonging to 188 families. Two main clinical groups were identified: 227 cases of Friedreich ataxia and 74 cases of cerebellar hereditary ataxia of P. Marie type. The association in the same patient of peroneal atrophy of Charcot Marie type with Friedreich ataxia (17 cases) or P. Marie cerebellar hereditary ataxia (13 definite cases and 13 probable) was the most striking finding. "Forme fruste", incomplete form or complex form of Friedreich ataxia were present in some families while in some others there was spastic paraplegia or pure Charcot Marie Tooth disease. This clinical heterogeneity in families of spino-cerebellar degeneration is discussed.
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PMID:[Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias]. 178 Jun 8


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