Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a family with a 12-year-old boy who suffered from a maternally inherited syndrome characterized by a combination of sensorineural hearing loss, myoclonus epilepsy, ataxia, severe psychomotor retardation, short stature, and diabetes mellitus. First, he showed a muscular hypotonia with hearing loss; later, he developed a myoclonus epilepsy, growth failure, and severe psychomotor retardation. At the age of 10 years, he developed diabetes mellitus. After initiation of combined ubiquinone and vitamin C treatment, we observed a progression in psychomotor development. Lactate and pyruvate levels in blood and cerebrospinal fluid were normal. No ragged red fibers or ultrastructural abnormalities were seen in a skeletal muscle biopsy. Biochemical assays of respiratory chain complex activities revealed decreased activity of complexes I and IV. By sequence analysis of mitochondrial DNA encoding transfer ribonucleic acids (RNAs), a homoplasmic T to C substitution at nucleotide position 7512 was found affecting a highly conserved base pair in the tRNA(ser(UCN)) acceptor stem. Asymptomatic family members of the maternal line were heteroplasmic for the mutation in blood samples. Analysis of mitochondrial DNA in patients with hearing loss and myoclonus epilepsy is recommended, even in the absence of laboratory findings. Therapeutically, ubiquinone and antioxidants can be beneficial.
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PMID:Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy. 2198 53

The incidence of autoimmune inner ear disease (AIED) is difficult to determine: probably it is a rare disease, accounting for <1% of all cases of hearing impairment or dizziness. Nevertheless, the diagnosis of AIED might be overlooked because of the lack of a specific diagnostic test. The hallmark of this clinically diagnosed condition is the presence of a rapidly progressive, often fluctuating, bilateral sensorineural hearing loss (SNHL) over a period of weeks to months. The progression of hearing loss is too rapid to be diagnostic for presbycusis and too slow to conclude a diagnosis of sudden SNHL. Vestibular symptoms, such as generalized imbalance, ataxia, positional vertigo and episodic vertigo may be present in almost 50% of patients. Occasionally only one ear is affected initially, but bilateral hearing loss occurs in most patients, with symmetric or asymmetric audiometric thresholds. Almost 25-50% of patients also have tinnitus and aural fullness, which can fluctuate. Systemic autoimmune diseases coexist in 15-30% of patients.
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PMID:Immune-mediated inner ear disease. 1692 3

Following surgery in the USA in 1992 to remove a large right cerebello-pontine angle tumour, a 39-year-old woman developed severe brainstem and cerebellar infarction. This left her with severe visual impairment and ataxia. She became able to communicate by means of an adapted finger-spelling alphabet. She had total hearing loss in the right ear and a mild to moderately severe sensorineural hearing loss in the left ear, and severe tinnitus heard throughout the head. Additionally, she experienced hypersensitivity to sound above normal conversational levels, which evoked a synaesthetic feeling of coldness across her upper torso. Previous linear analogue hearing aid fitting had not been beneficial for either hearing or tinnitus. Careful fitting of a digital hearing aid, together with tinnitus counselling, inhibited the patient's tinnitus to 25 per cent of its former intensity after a six month acclimatisation period, and improved communication.
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PMID:Management of tinnitus induced by brainstem and cerebellar infarction associated with complications of cerebello-pontine angle surgery. 1740 65

Parkinsonism has been described in patients with mutations in POLG1 gene. The W748S mutation is one of the most common mutations in this gene and it has been found to be a frequent cause of autosomal recessive ataxia in adults and the Alpers syndrome in children. We found the W748S mutation in a 65-year-old man with a late-onset syndrome consisting of ataxia, parkinsonism, ophthalmoplegia, peripheral neuropathy, and sensorineural hearing loss. Parkinsonism is one of the phenotypic features associated also with the W748S mutation.
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PMID:Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene. 1832 54

We describe what might have been the first reported case of a neuroendocrine carcinoma of the jugular foramen. A 50-year-old woman presented with progressive left-sided sensorineural hearing loss, vertigo, pulsatile tinnitus, headaches, and ataxia. Magnetic resonance imaging revealed a 4-cm left-sided jugular foramen tumor. The patient underwent near-total resection of the tumor. Despite lower cranial nerve preservation, postoperative paralysis of cranial nerves IX and X occurred, and vocal fold medialization was performed 5 days later. The final pathologic diagnosis was neuroendocrine carcinoma. The patient was treated with concurrent chemotherapy and intensity-modulated radiation therapy. This article will discuss the pathologic features and the management of jugular foramen tumors, along with the differential diagnosis of these rare tumors.
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PMID:Neuroendocrine carcinoma of the jugular foramen. 1843 28

Brucellosis is a common zoonosis in many parts of the world, including Mediterranean and Middle Eastern countries. The disease is primarily related to occupations at risk, such as veterinarians, farmers, laboratory technicians, abattoir workers, and others working with animals and their products. Neurologic complications of brucellosis are quite rare, ranging from 1.7 to 10% of those infected. To date, no cases of neurobrucellosis with hydrocephalus have been reported. A 38-year-old right-handed farmer complained of headaches, nausea, vomiting, gait disturbance, and sweating for 2 days. He also complained of bilateral hearing loss of 4 months duration. On neurologic examination, dysmmetry, dysdiadochokinesis, ataxia on the left, and bilateral sensorineural hearing loss existed. On cranial MRI, a communicating hydrocephalus was noted. Because the patient consumed fresh sheep cheese and was a farmer, brucellosis was considered in the differential diagnosis. Brucella agglutination was positive with a 1/320 titer in the blood and a 1/80 titer in the cerebrospinal fluid. Ceftriaxone, doxycycline, and rifampicin were administered and by the fourth week of treatment, the ataxia was markedly improved, and the patient was able to walk without support. His cranial MRI demonstrated a total regression of the hydrocephalus. As a result, we suggest that neurobrucellosis should be considered in patients with hydrocephalus, especially if they live in an endemic area for brucellosis, even in the absence of other systemic signs.
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PMID:First case report of neurobrucellosis associated with hydrocephalus. 1849 39

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their condition worsens progressively. Some children are born with ankle equinus or develop hydrocephalus in the first year of life. Main features are immune deficiency (manifested by recurrent infections, especially in the first decade of life), skeletal abnormalities (mild-to-moderate dysostosis multiplex, scoliosis and deformation of the sternum), hearing impairment (moderate-to-severe sensorineural hearing loss), gradual impairment of mental functions and speech, and often, periods of psychosis. Associated motor function disturbances include muscular weakness, joint abnormalities and ataxia. The facial trait include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, and prognathism. Slight strabismus is common. The clinical variability is significant, representing a continuum in severity. The disorder is caused by lysosomal alpha-mannosidase deficiency. Alpha-mannosidosis is inherited in an autosomal recessive fashion and is caused by mutations in the MAN2B1 gene located on chromosome 19 (19 p13.2-q12). Diagnosis is made by measuring acid alpha-mannosidase activity in leukocytes or other nucleated cells and can be confirmed by genetic testing. Elevated urinary secretion of mannose-rich oligosaccharides is suggestive, but not diagnostic. Differential diagnoses are mainly the other lysosomal storage diseases like the mucopolysaccharidoses. Genetic counseling should be given to explain the nature of the disease and to detect carriers. Antenatal diagnosis is possible, based on both biochemical and genetic methods. The management should be pro-active, preventing complications and treating manifestations. Infections must be treated frequently. Otolaryngological treatment of fluid in the middle ear is often required and use of hearing aids is invariably required. Early educational intervention for development of social skills is needed and physiotherapy is important to improve bodily function. Orthopedic surgery may be necessary. The long-term prognosis is poor. There is an insidiously slow progression of neuromuscular and skeletal deterioration over several decades, making most patients wheel-chair dependent. No patients manage to be completely socially independent. Many patients are over 50 years of age.
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PMID:Alpha-mannosidosis. 1865 71

This study retrospectively reviewed our experience in the diagnosis of six patients with posterior fossa lymphoma during the past decade. Initial manifestation included vertigo in all patients (100%) and ataxia in 4 (67%), with a mean duration of 40 days. Audiometry revealed sensorineural hearing loss in five patients (83%). Gaze-evoked nystagmus was also noted in five patients (83%). Electronystagmography (ENG) showed multiple central signs, e.g., abnormal eye tracking test, abnormal optokinetic nystagmus test, abnormal caloric and/or visual suppression tests. MR imaging demonstrated single or multiple or diffuse enhanced mass lesions in the cerebellum and/or brainstem. Two patients received lumbar puncture for cytological examination of cerebrospinal fluid (CSF) which disclosed lymphoma cells, while the other four patients underwent craniotomy for tissue proof, and the histopathological study confirmed as lymphoma. Then, all patients underwent irradiation coupled with chemotherapy. At the close of this study, three patients died, two were lost and one was alive. Although rare, aggressive posterior fossa lymphoma should be kept in mind when seeing a patient with persistent vertigo and ataxia accompanied by multiple central signs in ENG examination. An MRI scan followed by CSF cytological examination or histopathological study may help to confirm the diagnosis.
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PMID:Posterior fossa lymphoma with initial vertigo presentation. 1868 28

We describe a 64-year-old man with scrub typhus who presented with both polyneuropathy and cerebral infarction. A eurological examination revealed a confused mental state, stiff neck, hearing impairment, symmetric weakness, sensory loss, and ataxia. Electrophysiologic studies showed demyelinating sensorimotor polyneuropathy and sensorineural hearing loss. Brain magnetic resonance imaging showed multiple infarctions. Brain involvement or polyneuropathy associated with scrub typhus has been rarely reported, and the pathogenic mechanism underlying the multiple neurological complications remains to be elucidated.
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PMID:Polyneuropathy and cerebral infarction complicating scrub typhus. 1951 23

Superficial cerebral hemosiderosis is characterized by sensorineural hearing loss, gait ataxia and pyramidal signs with irreversible myelopathy. It is caused by chronic hemorrhage into the subarachnoid space with hemosiderin deposition in the subpial, leptomeningeal and subependymal layers. Imaging of the entire neuroaxis is indicated to localize a source of bleeding, including cerebral and spinal angiography when necessary. Taking into account clinical signs and symptoms the interpretation of T2*-weighted images allows the radiologist to set the course for the optimal therapeutic regimen.
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PMID:[Hearing loss and gait ataxia without dizziness. Hemosiderosis]. 1978 28


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