Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 36 year-old woman beginning with spastic paraparesis at her age of 11 visited us for evaluation of progressive muscular weakness of the distal portions of the upper extremities and difficulty in speaking at her age of 33. The neurological features at the present are as follows; fine horizontal gaze-nystagmus, impaired smooth pursuit ocular movement, highly spastic paraplegia with pes equino-varus necessitating canes and the wheel-chair, highly accentuated PTRs and ATRs associated with positive Babinski's sign, diminished or absent deep reflexes in the upper extremities, moderate muscular wasting with fasciculation on the tongue and distal portions of the upper extremities (rt less than lt). Sensory or cerebellar functions remain normal. No autonomic finding has been manifested. The HTLV-I antibody titers of serum (eg. PA method: x8192 ) and cerebrospinal fluid are highly positive in various methods. That of her mother (no blood-transfusion history) is positive. The provirus genome analysis on peripheral lymphocytes using the Southern blotting method by the cleaving enzyme Psi I was unable to discriminate that of an ATL patient. MRI of the central nervous system revealed higher signal area (short SE) at the C5/6 region and atrophy of C7/8 region. Neither a definite lesion in the lower brain stem, cerebellum nor cerebral hemispheres was identified. The skeletal muscle X-ray CT on the lower extremities revealed the atrophic flexor thighs and the anterior tibial and peroneal muscles. Needle EMG showed the prominent neurogenic changes in the atrophic muscles. Oral prednisolone therapy for four months relieved nystagmus and difficulty in walking, slightly. She, however, discontinued because of its side effect.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[HTLV-I associated encephalo-myelopathy resembling ALS with concurrence of acute promyelocytic leukemia in a member of the relatives]. 274 90

A case of multiple sclerosis (MS) in a 39 year old Japanese female with high antibody titer to human T-lymphotropic virus type I (HTLV-I) in serum and cerebrospinal fluid (CSF) was reported. At the age of 15, gait and urinary disturbances accompanied by sensory impairment in the lower abdomen and lower extremities developed suddenly. The motor disturbance slowly progressed to tetraparesis over a period of 15 years with several remissions. At the age of 28 the patient suffered from an acute loss of visual acuity, unilateral initially, and became blind by the age of 34. On admission to our department in September, 1987, the patient was alert and had spastic paraparesis, the impairment of all sensory modalities below the level of Th 10 and urinary disturbance. Weakness of facial muscles, nystagmus, deviation of the tongue and dysarthria were also noted. By the PA method, the antibody titer to HTLV-I was measured x512 in the serum and x64 in the CSF. Western blotting analysis of the CSF disclosed the bands to p19, p24 and p28 of HTLV-I gag proteins. The CSF contained a few ATL-like atypical cells and showed mild lymphocytosis, but the total protein was not increased. The computed tomography revealed diffuse low density areas in the cerebral white matter. The magnetic resonance imaging disclosed high intensity signal areas in the cerebral white matter and in the dorsolateral portion of the medulla oblongata on the T2 weighted image. The link of HTLV-I infection to the pathogenesis of human demyelinating diseases was discussed.
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PMID:[A case of multiple sclerosis with high CSF antibody titer to HTLV-I]. 275 51

A 67-year-old woman began to have difficulty in walking due to spastic paraparesis, sensory impairment in the lower limbs and instability on standing at the age of 59 years. Eight years later, she developed complete spastic paraplegia and urinary incontinence. On examination, she was found to have down-beat nystagmus and ocular hypermetria. Brain CT scan and MRI revealed cerebellar atrophy, predominantly in the vermis. HTLV-I antibody titer was increased in both serum and cerebrospinal fluid (CSF). She was diagnosed as having HAM and placed on prednisolone, salazosulfapyridine and high-dose vitamin C. Her symptoms including gait disturbance, nystagmus and ocular hypermetria improved but did not completely disappear. In parallel with clinical improvement, the antibody titer to HTLV and the ratio of CD4/CD8 lymphocyte subsets in blood decreased. The above observations suggest that the cerebellar signs and cerebellar atrophy share the same etiology with HAM. The presence of nystagmus and prominent cerebellar signs plus the CT and MRI findings strongly suggest that the lesions in HAM are not limited to the spinal cord but extend to the brainstem and cerebellum.
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PMID:[HTLV-I associated myelopathy (HAM) with cerebellar atrophy presenting a down-beat nystagmus]. 766 28

The patient, a 65-year-old woman, had liver cirrhosis, and had blood transfusion at the age of 49 and 56. Early in September, 1989, she gradually developed numbness of the legs, staggering gait, and apathy with hallucination. In October, she became incontinent and unable to stand, and was admitted to Konan Hospital. On admission, she was disoriented with poor comprehension. Cranial nerves were intact except for horizontal nystagmus on lateral gaze. She had generalized areflexia without pathological reflex. Muscular forces were fairly preserved. Superficial sensations were diminished in the upper limbs as well as below Th-7 level. Deep sensation was abolished in the distal parts of the extremities with athetotic finger postures on arm rising. She had urinary and fecal incontinence. Results of routine laboratory examinations were non-contributory. Chest CT scan and sputum cytology were normal. CSF contained one cell/microliter, 95 mg/dl of protein with positive oligoclonal IgG bands. Anti-HTLV-I antibody was positive in serum and CSF. Urodynamic studies showed neurogenic bladder of supranuclear type. MNCV was slightly decreased. SNAP and SEP were not evoked. On sural nerve biopsy, the density of myelinated fibers was 720/mm2, and that of unmyelinated fibers, 26,978/mm2. ABR and VEP were abnormal. EEG showed diffuse theta waves with paroxysmal delta and sharp waves. T2-weighted MR images of the brain showed patchy areas of high signal intensity in the cerebral white matter. Soon after administration of methylprednisolone, her consciousness became clear. EEG normalized in 4 months. Twenty months after the onset, she became ambulant with crutch, but still has dysuria and sensory deficits in the hands and lower limbs. The possible relationship between encephalomyeloneuritis and HTLV-I infection was discussed.
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PMID:[A case of encephalomyeloneuritis and HTLV-I infection]. 1047 58

Cerebellar symptoms at onset are unusual in HTLV-I/II-associated tropical spastic paraparesis (TSP). A prospective study of neurological disorders in Panama (1985-1990) revealed 13 patients with TSP and 3 with HTLV-I/II-associated spinocerebellar syndrome (HSCS) presenting at onset loss of balance, wide-based stance and gait, truncal instability, and mild leg ataxia (vermian cerebellar syndrome), with absent upper limb dysmetria but with postural tremor, downbeat nystagmus, and dysarthria. In 4-5 years, spinal cord manifestations of TSP developed, including spastic paraparesis, pyramidal signs, bladder and sphincter disturbances. Two patients were infected with HTLV-I and another one, a Guaymi Amerindian woman, with HTLV-II. Magnetic resonance imaging (MRI) demonstrated cerebellar atrophy involving predominantly the superior vermis. Mild axonal peripheral neuropathy in the lower limbs, dorsal column involvement and inflammatory myopathy were found by neurophysiology studies. There are 14 similar cases reported in Japan and Canada, but to our knowledge these are the first documented cases of HSCS in the tropics. A cerebellar syndrome constitutes another form of presentation of HTLV-I/II infection of the nervous system.
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PMID:Spinocerebellar syndrome in patients infected with human T-lymphotropic virus types I and II (HTLV-I/HTLV-II): report of 3 cases from Panama. 1087 59

HTLV-I associated myelopathy/tropical spastic paraparesis (HAM/TSP) is characterized by spastic paraparesis in the lower extremities, and urinary disturbance. HAM/TSP has also been less frequently associated with cerebellar syndromes and nystagmus. We report a case of HAM/TSP presenting with cerebellar ataxia and nystagmus. The patient was a 73-year-old woman who was born in southern Japan. At age 41, she developed pain and spasticity in the bilateral lower limbs and gradually progressive gait disturbance. At age 57, she was diagnosed with HAM/TSP based on spastic paraparesis in the lower limbs, urinary disturbance and positive anti HTLV-I antibody in serum and cerebrospinal fluid. In June 2008, she was referred to our university and hospitalized for rehabilitation. Twenty days later, she experienced rotatory vertigo sensation. Magnetic resonance imaging revealed pontocerebellar atrophy. The patient presented with cerebellar signs in the upper limbs, gaze-evoked nystagmus in the sitting position and right-beating horizontal nystagmus in the supine and head-hanging positions. Electronystagmography (ENG) showed horizontal saccadic overshoot dysmetria and horizontal saccadic pursuit. Nystagmus is rare among the literature on HAM/TSP. ENG is helpful to evaluate and confirm the cerebellar syndromes of HAM/TSP.
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PMID:A case report of HTLV-I associated myelopathy presenting with cerebellar ataxia and nystagmus. 2103 92