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)

Friedreich's ataxia is an inherited disorder of the nervous system, requiring special care during anaesthesia, because of increased sensitivity to muscle relaxants. We report a case of Friedreich's ataxia in a 31-year-old woman, anaesthetised on two occasions, for tendinoplasty and pes cavus repair. Atracurium was used for neuromuscular blockade and monitored by a train-of-four twitch technique. The patient's response was normal. She returned to adequate spontaneous breathing within 20 min of the last dose of the muscle relaxant without need for anticholinesterase administration. When neuromuscular function is monitored, normal doses of muscle relaxant can safely be used in these patients.
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PMID:Requirements for muscle relaxation in Friedreich's ataxia. 953 43

One of us (MP) learned about the mapping of Huntington disease gene to chromosome 4 from the late Dr. Anita Harding. She got the news over the phone from her London office during a visit to Italy for a meeting on hereditary ataxias. In Britain, they receive Nature at least a week earlier than us. Dr. Harding was very excited, and she immediately said that that was the way to go if we wanted to understand the causes of hereditary ataxias, classify these diseases in a rational way, and eventually find a treatment. At that time, the challenge seemed, and indeed was, formidable. No clue was then available about the genetic basis of what Dr. Harding aptly called "hereditary ataxias of unknown cause," their classification was confused and controversial, and all attempts to find specific biochemical abnormalities had failed. Fourteen years later, the success of the molecular genetic studies is astounding. The defective genes have been identified for Friedreich ataxia, the major recessive "hereditary ataxia of unknown cause," and for five dominantly inherited "hereditary ataxias of unknown cause." Three more dominant ataxia genes have been mapped. The molecular pathogenesis of the dominant ataxias begins to be unraveled and animal models have been and are being developed. Information is also quickly accumulating about the defective protein in Friedreich ataxia. Direct molecular diagnosis is now possible. Classification has been revolutionized. Diagnostic criteria are being redefined in the light of the molecular discoveries. The goal of this review, dedicated to the memory of the late Dr. Harding, is to offer a concise summary of current knowledge about the molecular genetics of some of the hereditary ataxias that used to be classified as of "unknown cause."
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PMID:Molecular genetics of the hereditary ataxias. 967 5

We report here a 25-year-old girl with Friedreich's ataxia (FA) who showed slowly progressive ataxia, deep sensory disturbance and loss of large myelinated fiber in the sural nerve. There was no evidence of cerebellar atrophy or abnormal values of vitamin E, albumin, CK, and gamma-globulin in the serum. Except for mild mental retardation, her clinical and laboratory findings were consistent with those of FA. However, she had no abnormal GAA trinucleotide repeat expansion on chromosome 9q13, unlike typical FA patients in Europe. Her cardiac muscle is not involved instead of 20 years have passed since her ataxia developed. She is considered to belong to a specific type of FA which lacks cardiac muscle involvement and abnormal gene encoding frataxin.
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PMID:[A case of Friedreich's ataxia having no abnormal gene]. 1213 87

Our aim was to evaluate with modern tools the efficacy of orthopedic shoes on gait disorders in Friedreich's ataxia. The case of a 26-year-old woman with Friedreich's ataxia is described. She mainly complained of fatigability, ankle instability, frequent falls and pain. Impairments involved a cerebellar syndrome, a proprioceptive deficit, an upper motor neurone syndrome and osteoarticular deformities. Gait disabilities included ataxia and requirement of a cane. Handicap concerned outings, altering quality of life. Orthopedic shoes combined with physical therapy were prescribed. Assessment of treatment was planned after one month. Self-assessment by the patient was noted. Clinical assessment was provided by physical examination and clinical gait analysis supported by video. Quantified assessment was performed with a Gaitrite system recording spatiotemporal gait parameters. Our results demonstrated that orthopedic shoes improved gait disorders in this patient with Friedreich's ataxia. Pain decreased, walking distance increased, falls were less frequent, going out became possible, stability was better, speed, step length and cadence increased. Both clinical and quantified assessment confirmed functional improvement felt by the patient. In conclusion complete medical and social assessment determines quality of prescription in physical and rehabilitation medicine.
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PMID:Orthopedic shoes improve gait in Friedreich's ataxia: a clinical and quantified case study. 1838 34

We report a 67-year-old Japanese woman with ataxia with oculomotor apraxia type 2 (AOA2). She was born to consanguineous parents and showed a teenage onset, a slowly progressive cerebellar ataxia and sensory-motor neuropathy and an elevated level of serum alpha-fetoprotein (AFP). All of these clinical features were consistent with typical AOA2. She lacked oculomotor apraxia, as frequently observed in previously reported AOA2 patients. She was homozygous for a novel nonsense mutation, Glu385Ter (E385X), in the senataxin gene (SETX). To our knowledge, this is the fifth Japanese family with genetically confirmed AOA2. The mutations in SETX in Japanese AOA2 families are heterogeneous, except for M274I, which has been found in two unrelated families. More extensive screening by serum AFP followed by molecular genetic analysis of SETX in patients with Friedreich's ataxia-like phenotype may show that AOA2 is more common in Japan than previously thought.
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PMID:A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). 1989 83

A 24-year-old female who was recently diagnosed with Type 1 diabetes mellitus (TiD) presented with a five-year history of visible gait disturbance and slurred speech. Her neurologic examination was remarkable for dysarthria, bilateral nystagmus, dysdiadochokinesia, finger-nose incoordination, heel-knee incoordination, and ataxic gait. A brain MRI disclosed diffuse cerebellar atrophy. Her serum antiglutamic acid decarboxylase (GAD) antibody titer was elevated. Antinuclear antibody (ANA) test was positive with atiterofl:2560 and a speckledpattern. Genetictests for inherited ataxia, including Friedreich ataxia, were negative for mutations. Her cerebrospinal fluid (CSF) analysis revealed oligoclonal bands and she had a positive CSF GAD65 antibody. A diag- nosis of GAD antibody-induced cerebellar ataxia was considered. She developed GAD autoimmune antibody positive TiD during the course ofher dis- ease. GAD antibody-associated cerebellar ataxia is a rare entity, however it should be considered as a possibility in patients with associated autoimmune disease and positive anti-GAD antibody.
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PMID:High Titer of Circulating Antiglutamic Acid Decarboxylase Antibodies in a Patient with Cerebellar Ataxia and Type 1 Diabetes. 2977 59