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)

The triad of ataxia, areflexia and ophthalmoplegia was first described as a variant of the Guillain-Barre syndrome in 1932 by Collier. In 1956, Miller Fisher reported three patients with ataxia, areflexia, and ophthalmoplegia as a separate entity. Since then, 223 cases of Miller Fisher syndrome have been published. The male/female ratio is 2:1 with a mean age of 43.6 years at the onset of the disease. A viral infection preceded the neurological symptoms in 71.8% of cases with an average symptom-free interval of 10 days. First symptoms were diplopia (38.6%) or ataxia (20.6%). An areflexia was present in 81.6% of cases. Cranial nerves other than the oculomotor nerves were involved in 127 cases (56.9%): cranial nerves 7 (45.7%), 9 and 10 (39.9%), and 12 (13%) were involved. In 53 cases a tetraparesis occurred. An elevated protein value was present in 134 patients (64.4%); cerebrospinal fluid findings were normal in 56 patients. Eighteen patients showed a mild pleocytosis. Besides the cerebellar type of ataxia, initial disturbances of consciousness (n = 8), supranuclear oculomotor signs (n = 22), and pathology findings in electroencephalography (n = 38), computed tomography (n = 8), and magnetic resonance imaging (n = 2) were reported as evidence for a central nervous system involvement in the Miller Fisher syndrome. The prognosis of Miller Fisher syndrome was good--recovery occurred after a mean time period of 10.1 weeks. Residual symptoms were present in 74 cases (33.2%), and a recidivism of the Miller Fisher syndrome was reported in seven patients. Eight patients died. Of six patients with autopsy findings, four exhibited central nervous system lesions.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The Miller Fisher syndrome. Review of the literature. 153 3

We report a 54-year-old man with progressive proximal muscle atrophy and gynecomastia. The patient had an insidious onset of weakness in his lower extremities at age 14, in that he noted a difficulty in standing up from a chair. Soon after he noted some difficulty in climbing up stairs. At age 35, he noted weakness in his arms; his weakness slowly progressed in that he became unable to walk or stand alone before 40 years of age. He also noted gynecomastia at that age. He was admitted to our hospital for the work up on September 16, 1993, when he was 54-year-old. On admission, he was alert and oriented; his BP was 150/70 mmHg; he had bilateral gynecomastia, however, no other skeletal deformities were found. On neurologic examination, he was mentally sound without dementia, and his higher cerebral functions were normal. Cranial nerves also appeared intact without facial atrophy, dysarthria, or dysphagia; no atrophy was noted in the tongue. He had marked muscle atrophy in both upper and lower extremities more marked in the proximal portions; muscle strength was approximately in the range of 2/5 to 3/5 in the proximal parts, and 4/5 in the distal parts in both upper and lower extremities. No fasciculation was noted; muscle tone was flaccid; no ataxia was present. Deep reflexes were either lost or markedly diminished. No Babinski sign was noted. Sensation was intact. Laboratory examination revealed normal blood counts; serum CK was slightly increased to 131 IU/l; ECG showed complete right bundle branch block; EMG revealed no active units in the right biceps brachii, deltoid, quadriceps femoris, and triceps surae muscles; in other muscles tested, motor unit potentials of low amplitude and short duration were seen; in the right tibialis anterior muscle, however, motor unit potentials with an amplitude up to 6 m V were also seen. Nerve conduction velocities were normal. A diagnostic procedure was performed. He was discussed in the neurological CPC, and the chief discussant arrived at the conclusion that this patient had Becker type of progressive muscular dystrophy. In her differential diagnosis, the possibility of Kennedy-Alter-Sung syndrome was discussed because this patient had gynecomastia. However, the discussant excluded that possibility because of absence of both bulbar symptoms and typical neurogenic changes in his EMG. The diagnostic procedure was a muscle biopsy on the left tibialis anterior muscle. Histologic observation on HE stained specimens revealed marked inequality in the muscle fiber diameters, increase in endomysial nuclei, proliferation of connective tissue, and fiber splitting.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A 54-year-old man with progressive proximal muscle atrophy and gynecomastia]. 766 8

We described a patient presenting with apnea attacks due to an unilateral small infarction in the right medulla oblongata. The patient was a 55-year-old man and was referred to our hospital because of severe headache and progressive left hemiparesis. Neurological examinations revealed left hemiparesis and the impairment of pain, touch, temperature and vibration sense in the left side of his body. Position sense was normal. Cranial nerves were intact including the trigeminal nerve. Ataxia was not noted. After an admission, the patient suffered from three episodes of apnea attack of sudden onset followed by cardiac arrest and convulsion. Magnetic resonance imaging demonstrated a clearly circumscribed small oblique lesion situated in the caudal lateral tegmental portion to the rostral ventromedial part of right medulla oblongata . The right vertebral artery was not visualized by magnetic resonance angiography. Serial computed tomography scans failed to identify this small lesion. We conclude that apnea attack in the present patient represents a central type apnea caused by the unilateral damage of the respiratory center in the medulla oblongata.
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PMID:[A case of apnea attacks due to an unilateral infarction in the right medulla oblongata]. 826 37

We report a 66-year-old man with progressive spinal paraplegia. He was well until June of 1991 when he had an onset of backache and right chest pain. On August 25, he lost sensation to void and he became unable to urinate. On the same day, he noted weakness in his legs which became progressively worse, and he was admitted to our hospital. Past medical history included diabetes mellitus which was found 3 years previously. He had upper gastrointestinal series 2 months before, which revealed a normal study. On admission, he was alert and general physical examination was unremarkable. Neurological examination revealed a mentally sound man with normal higher cerebral functions. Cranial nerves were also intact. He was unable to walk. No muscle atrophy was noted, but he had moderate to marked (2/5) weakness in both legs. No ataxia was noted in the upper extremities. Jaw jerk was normal, however, deep reflexes in the upper extremities were decreased, and absent in the lower extremities Babinski sign was present bilaterally. All sensory modalities were diminished below the Th 6 dermatome. No meningeal sign was present. Emergency myelography was performed on the day of admission, which revealed complete block from the Th4 to Th8 segments. CSF taken at that time was xanthochromic, positive Queckenstedt test containing 1,133 mg/dl of protein, 54 mg/dl of sugar and 1/3 microliters of lymphocyte. On August 31, laminectomy was performed from Th5 to Th7. The spinal bones in this area was very fragile and hemorrhagic. A soft yellowish vascular-rich tissue was surrounding the spinal cord in the epidural space. Despite surgery his weakness in legs worsened, and he became paraplegic by September 10th. He became somnolent with disorientation to time. In the subsequent course, he developed metabolic acidosis on September 26. On September 28, he became anuric and hypotensive. He expired later on that day.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A 66-year-old man with backache and progressive difficulty of gait]. 826 41

We report a right-handed 34-year-old woman with diffuse muscle atrophy. The patient was a full-term infant of uneventful delivery, however, motor milestones were delayed in that neck control was obtained at 10 months of the age and she started to walk unassisted at 2 years of the age. Mental development was normal. She was unable to run with her mates at her kindergarten and she required a handrail when she walk up the stairs. She could not close her mouth completely at the primary school. She was unable to use a straw as a middle school pupil. Recently, she noted difficulty in raising her head from the supine position, and has become unable to walk a long distance. She was admitted to our hospital in September 17, 1994 when she was 34-year-old. On admission, general physical examination revealed that she looked slender weighing 38 kg with 149.5 cm height. She showed a high arched palate, slight scoliosis, and pes equinus. Otherwise general physical examination was unremarkable. Upon neurologic examination, she was alert and well oriented. Cranial nerves were unremarkable except for bilateral facial atrophy and moderate weakness. Her voice was of nasal quality, and swallowing was slightly difficult. No atrophy was noted in the sternocleidomastoid muscle. She showed waddling gait and positive Gowers' sign. Diffuse muscle atrophy was noted and mild to moderate weakness was presented more in the proximal part in both upper and lower extremities, however, deltoid muscles retained normal power. No ataxia was noted. All the deep tendon reflexes were lost. Sensation was intact. Routine laboratory examination was unremarkable. Serum CK was 56 IU/l. Electromyography revealed myogenic changes in the deltoid, biceps, and quadriceps muscles. A diagnostic biopsy was performed in the left biceps brachii muscle. The patient was discussed in the neurologic CPC, and the chief discussant arrived at the conclusion that the patient had nemaline myopathy. Opinions were divided among nemaline myopathy, central core disease, and congenital fiber type disproportion. Histologic examination of the biopsied specimen revealed marked atrophy of type 1 muscle fibers; many central nuclei were seen in the type 1 fibers. Approximately 70% of the muscle fibers were type 1 fibers. No nemaline rods or central cores were noted. Histologic appearance was consistent with the diagnosis of congenital fiber type disproportion.
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PMID:[A 34-year-old woman with delayed motor milestones, high arched palate, and proximal muscle weakness]. 875 5

We report a right-handed 22-year-old man with muscle atrophy. His prenatal course and the delivery were uneventful, but he walked unsupported at 15 months of the age for the first time. He was apparently well but he was in the slowest group in running in schools. He noted a difficulty in climbing up stairs at 19 years of the age, and he was admitted to our hospital for the work up when he was 22-year-old. His family history and past medical history were unremarkable. On admission, he was a slender and tall guy in no acute distress. General physical examination was unremarkable, but he had high-arched palate and high-arched feet. On neurologic examination, mental status and higher cerebral functions were normal. Cranial nerves appeared intact, however, he had a thin and long face without weakness. The sternocleidomastoid muscles appeared somewhat atrophic and were moderately weak. He was able to walk normally, however, he needed a handrail when he went up stairs. Thigh muscles and triceps surae muscles were atrophic and slightly weak (4/ 5). Muscle tone was hypotonic and no deep tendon reflexes were elicited except for jaw jerk. No ataxia or involuntary movements were seen; sensation was intact. Laboratory examination was unremarkable except for slight increase in serum CK to 145 IU/L. An ischemic forearm exercise test revealed slight elevation of lactate and pyruvate in that base line levels were 5.4 mg/dl and 0.52 mg/dl, respectively, which rose to 11.4 mg/dl and 0.85 mg/dl, respectively, 20 minutes after the initiation of the ischemic exercise. The base line serum ammonia was 102.5 micrograms/dl which decreased to 64.8 micrograms/dl at 20 minutes. A diagnostic biopsy was performed from the left quadriceps femoris muscle. The patient was discussed in a neurologic CPC, and the chief discussant arrived at the conclusion that the patient had nemaline myopathy. Opinions were divided between nemaline myopathy and debranching enzyme deficiency. The results of the ischemic exercise was not typical of glycogen storage disease, but elevations of lactate and pyruvate did not appear to be sufficient to be interpreted as normal. Histologic examination of the biopsied specimen revealed marked type I fiber predominance and abundant nemaline rods. Cytoplasmic bodies were also seen. Histologic characteristics were consistent with the diagnosis of nemaline myopathy. The possibility of concomitant presence of AMP deaminase deficiency was discussed, because serum ammonia did not elevate in the ischemic exercise test.
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PMID:[A 22-year-old man with long-standing weakness and atrophy predominantly in the lower extremities]. 879 13

We report a 64-year-old woman who developed nausea, headache, and consciousness disturbance. She was well until four years before the onset of her neurologic illness when (April of 1990 at her 59 years of the age) she was found to have an early cancer in her anterior wall of the lower stomach. Subtotal gastrectomy was performed and the operative result was reported as curative. Four years after the surgery (December of 1994 at her 64 years of the age), she noted suboccipital headache and nausea which had become progressively worse and she was admitted to our service on May 24, 1995. On admission, she appeared chronically ill but general physical examination was unremarkable with normal vital signs. Neurologically she was alert and not demented, and the higher cerebral functions were intact. Cranial nerves were also unremarkable. She was able to walk in tandem and on heels. No motor weakness or ataxia was noted. Deep tendon reflexes were moderately increased, however, no Babinski sign was noted. Although she had headache, no meningeal signs were seen. Slight superficial and vibratory sensory loss was noted in both feet. Routine blood work was again unremarkable except for slight increase in CEA to 8.3 ng/dl (N < 5 ng/dl). The opening pressure of lumbar CSF was 180 mm H2O and the CSF contained 39 cells/microliter, 79 mg of protein, and 10 mg/dl of glucose. Approximately half of the cells were atypical malignant cells. Plain CT was unremarkable, however, tentorial border showed enhancement after contrast infusion. FGS showed no malignant tumors in the stomach. She was treated with intravenous glycerol and whole brain radiation, however, she continued to complain of severe headache, and her sensorium started to be disturbed one month after the admission. Follow-up cranial CT scan revealed enlargement of the lateral and the third ventricles. Her consciousness progressively deteriorated and she became comatose three months after the admission. Repeated cranial CT scan showed enlargement of the ventricles, but no mass lesions were seen within the brain. She developed respiratory arrest on September 25 of the same year. She was discussed in a neurological CPC and the chief discussant arrived at the conclusion that the patient had a gastric cancer with meningeal seeding developing meningeal carcinomatosis. The cause of deep coma was ascribed to damage of cerebral cortical areas secondary to metastatic carcinoma cells and fibrinous materials in the surface of the brain. Postmortem examination revealed thickening and clouding of leptomeninges of the cerebral convexity. On histologic observation, patchy areas of fibrous thickening were seen in the cerebral leptomeninges; in such areas, adenocarcinomatous cells were seen scattered. The basal meninges were free of carcinoma cells, however, leptomeninges of the cerebellum and brain stem tegmentum contained scattered carcinoma cells. The lateral and the third ventricles were enlarged, however, insides of the brain were free of pathologies; the ependymal layer were intact. In the stomach no carcinoma cells were remaining. Pneumonic changes were seen in the right upper and the left lower lobes which appeared to be the direct cause of her death. No evidence of tentorial herniation was noted. The cause of her deep coma was not clearly determined, however, combination of hydrocephalus and cortical malfunction due to leptomeningeal carcinoma cell infiltration and fibrinous material accumulation appeared to have played a role.
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PMID:[A 64-year-old woman with severe headache and progressive disturbance of consciousness]. 919 1

We report a 67-year-old hypertensive right-handed woman who developed severe pain and dystonia in her left upper and lower extremity after a thalamic infarction. She was well until 9 months prior to the present admission to our hospital, when she had an acute onset of left hemiparesis which turned out to have been caused by a thalamic infarct. Her hemiparesis showed nearly complete recovery during the next four months. She noted an onset of severe spontaneous pain and difficulty in using her left hand four months prior to the present admission. Neurologic examination on admission revealed an alert and well oriented Japanese woman. Cranial nerves were intact. Although she did not have weakness, her left hand showed thalamic posture, and upon standing, she showed a dystonic posture in which her left forearm took pronation and flexion at the elbow joint and her left lower extremity took extension in the knee joint and planter flexion in the ankle joint. Her dystonic posture increased during walking and disappeared in the supine position. She complained of severe spontaneous pain and tingling sensation in her left extremities. Position sense was diminished in her left leg. However other sensations were intact. She had slight ataxia on the left side. Deep tendon reflexes were symmetric, but the planter response was extensor on the left side. MRI revealed a small lacunar infarct involving the right posterolateral thalamic region. EMG with surface electrodes revealed non-reciprocal tonic discharges in the left biceps brachii and forearm flexor and extensor muscles. She responded poorly to various medications. Only trihexyphenidyl showed partial alleviation of her pain and dystonic posture. We thought her pain might be caused by dystonic contraction of the skeletal muscles, at least in part. We injected 25 IU of botulinus toxin as a total dose into her biceps brachii, triceps brachii, and wrist flexor muscles. A few days after the injection, her dystonic posture began to show marked improvement; as her dystonia improved, her pain also showed marked improvement. This patient appeared to represent a case of post-hemiplegic dystonia. Her pain was initially thought to be the thalamic pain. However, as her pain disappeared with improvement of her dystonia, her pain is most likely to have been caused by the dystonic muscle contraction. Botulinus toxin treatment appears to be useful for post-hemiplegic painful dystonia.
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PMID:[A case of post-hemiplegic painful dystonia following thalamic infarction with good response to botulinus toxin]. 949 Aug 97

We report a 73-year-old woman who presented progressive motor clumsiness, cortical sensory loss, and focal parietal lobe atrophy. She was well until one year prior to the present admission when she suffered from what appeared to be mild Fisher syndrome from which she showed excellent recovery. However, soon she noted a gradual onset of difficulty in hand movements and in the recognition of objects by hands. Neurologic examination revealed an alert and well oriented Japanese woman without dementia. Cranial nerves were unremarkable. Although, she did not have aphasia, apraxia, or agnosia, she showed marked clumsiness in skilled hand movements such as using chopsticks, hand writing, and buttoning. She had no motor weakness, ataxia, rigidity, or spasticity. Deep tendon reflexes were symmetrically diminished. Sensory examination revealed cortical sensory loss such as disturbances of two point discrimination, weight sensation, and stereotactic sensations. Her motor clumsiness appeared to be caused by her cortical sensory loss. MRI revealed marked focal atrophy in the bilateral parietal lobe, particularly in the postcentral gyrus and the adjacent association areas. Recently, neurodegenerative disorders with focal brain atrophy such as corticobasal degeneration, Pick's disease, and dementia of frontal lobe type have been reported, however, our patient does not fit to any of these known disorders nor clinical features are distinctly different from Alzheimer's disease. Our patient may be another example of progressive cerebral degeneration with emphasis on the parietal cortex.
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PMID:[A patient with focal bi-parietal atrophy presenting motor clumsiness and cortical sensory loss]. 971 Nov 23

We report an 84-year-old woman with progressive mental deterioration. She was well until January 1994, when she was 80 years of the age. At that time she developed a delusional ideation, in that she stated that she would be killed by her fellow members of the society for elderly, in which she was belonging. At times, she closed the shutter of her house saying that a stranger was wandering outside of her house. In 1995, she could not identify the face of her son's wife. When she went out for shopping, she lost her way to the home. She prowled about in and out of her home. In 1996, she had to be admitted to a nursing home, where quarrelled with other patients and behaved violently. She was admitted to the neurology service of Hatsuishi Hospital on November 20th, 1997. Family history revealed that her mother was said to be demented. On admission, she was alert and behaved in a good manner. She was disoriented to the time and unable to do serial 7. Her memory was very poor. She did not show aphasia or apraxia. Cranial nerves appeared to be intact. She showed no weakness or muscle atrophy. Gait was normal for her age. Plastic rigidity was noted in four limbs more on the right side. No ataxia was noted. Deep tendon reflexes were exaggerated, however, no Babinski sign was noted. Sensory examination was intact. Her hospital course was characterized by the development of progressive gait disturbance, violent behaviour, and prowling around. On November 30th, 1998, she fell down and suffered from a fracture in the neck of her femur. Although replacement of the femur head was performed, she became unable to walk after this episode. Her mental functions deteriorated further. She developed pneumonia and expired on February 2, 1999. She was discussed in a neurological CPC and the chief discussant arrived at a conclusion that the patient probably had diffuse Lewy body disease, because of the combination of dementia and parkinsonism. Other possibilities discussed in the CPC included Pick's disease, frontotemporal dementia and parkinsonism, and Alzheimer's disease. Post-mortem examination revealed moderate atrophy in the frontal and temporal cortices. Microscopic examination showed atrophy and gliosis in the hippocampus. Many diffuse plaque and neuritic plaques were seen in the frontal cortex by methenamine silver staining. Neurofibrillary tangles were also found. The Meynert nucleus was preserved. The putamen and the substantia nigra were also intact. Pathologic diagnosis was consistent with Alzheimer's disease.
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PMID:[An 84-year-old woman with progressive mental deterioration and abnormal behavior]. 1127 7


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