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)

The clinical findings in a group of 32 rheumatoid patients with symptomatic myelopathy are described. The myelopathy appeared in late middle age after many years of rheumatoid disease (average duration, 18 years). The most common radiological abnormality was anterior subluxation of C1. Other patterns occurred in about half the cases. The most common neurological findings were those of a mild to moderate spastic paraplegia, often with atrophy of muscles of the hands and sensory changes in the hands. Symptoms originating above the foramen magnum (nystagmus, diplopia, slurred speech) appeared to have a vascular cause and were sometimes associated with upward as well as posterior movement of the odontoid process. Root pain into the arms was not present, and its absence helped to distinguish these disorders from cervical spondylosis. Root pain into the territory of the C2 root was common. Medical or conservative therapy was not effective, and the preferred approach was use of a halo traction device followed by posterior fusion, with or without laminectomy. Pathologically, in 2 autopsy cases, the maximal change had occurred in the central gray matter and adjacent posterior and lateral columns. We postulate that direct pressure caused intermittent compression and narrowing of distal transverse branches of the anterior spinal artery.
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PMID:The cervical myelopathy associated with rheumatoid arthritis: analysis of patients, with 2 postmortem cases. 65 64

A girl aged 8 years and 10 months at death had shown signs of a slowly progressive neurological disease with onset in early infancy. The main clinical features were nystagmus, spastic paraplegia, amd mental deterioration. Pathological examination of the brain showed severe demyelination with perivascular preservation of mylein islands, presenting a tigroid pattern. The patient is the second case of classical Pelizaeus-Merzbacher's disease in Japan proven by autopsy.
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PMID:An autopsy case of classical Pelizaeus-Merzbacher's disease. 113 35

We examined three patients from two families of Jewish-Iraqi origin who had progressive reduction of visual acuity and childhood onset of bilateral optic nerve atrophy without additional retinal abnormalities. They had neurologic symptoms compatible with Behr's syndrome. Neurologic signs included increased tendon reflexes, a positive Babinski sign, progressive spastic paraplegia, dysarthria, head nodding, and horizontal nystagmus. Neurologic involvement varied between affected siblings. The patients excreted excessive amounts of 3-methylglutaconic acid and 3-methylglutaric acid in their urine. We compared the characteristic ophthalmic features and the spectrum of neurologic signs encountered in this recently delineated autosomal recessive clinical entity with those of previously described entities associated with 3-methylglutaconic aciduria. Patients with early-onset optic atrophy should be examined for neurologic signs and screened for organic aciduria. A detailed ophthalmic examination is important in patients with neurologic abnormalities compatible with Behr's syndrome.
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PMID:Behr's syndrome and 3-methylglutaconic aciduria. 138 36

A 29-year-old man complained of increasing paraplegia and sphincter disturbances. On admission, he was 23 years old. He had moderate pigmentation of the skin, and his neurological examinations revealed spastic paraplegia, hyperreflexia of both legs with Babinski's signs, a pinprick sensation deficit below the L-1 level, loss of vibration sense in the lower extremities and horizontal nystagmus on lateral gaze. Endocrinological examinations revealed adrenocortical insufficiency. CSF, EEG, EMG, brain-CT and myelography did not show any abnormalities, but metrizamide CT myelography at the low thoracic spinal cord revealed decreased cord diameter. Nerve conduction velocities showed impairment in the tibial and peroneal motor fibers. Auditory brain-stem response revealed elongated III-V interval. A cystometrogram disclosed a reflex neurogenic bladder. In the analysis of the fatty acid component of plasma sphingomyelin, the C26/C22, C25/C22, C24/C22 ratios were found to be increased, and the diagnosis of adrenomyeloneuropathy (AMN) was confirmed. The patient's mother was also found to be asymptomatic carrier of AMN on the basis of long chain fatty acid plasma levels. The MRI performed in his age of 29 years, showed marked spinal atrophy from low cervical to low thoracic regions and mild cerebellar atrophy. This findings seems to correspond with chronic progressive demyelination of spinal white matter such as pyramidal tract and fasciculus gracilis.
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PMID:[A case of adrenomyeloneuropathy with marked spinal cord atrophy on magnetic resonance imaging]. 191 36

Familial spastic paraplegia (FSP) was recorded in three families. The pattern of familial transmission and the onset in the second and third decade of life strongly suggested autosomal dominant inheritance. FSP in this series showed the consistent, classical, clinical features with some inconstant findings (nystagmus, dysarthria, posterior column involvement). Baclofen for the treatment of spasticity is beneficial in this condition and genetic counselling should be considered.
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PMID:Familial spastic paraplegia. 273 87

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

Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X-linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2-3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X-linked spinocerebellar ataxia and X-linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X-linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.
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PMID:Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. 281 91

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

X-linked hereditary spastic paraplegias (HSP) present with two distinct phenotypes, pure and complicated. The pure form is characterized by spasticity and gait difficulties but lacks the additional features (nystagmus, dysarthria, mental retardation) present in the complicated form. The complicated form is heterogeneous, caused by mutations of the L1CAM gene at Xq28 (SPG1) or the PLP gene at Xq22 (SPG2) that is allelic to Pelizaeus-Merzbacher disease (PMD). Since in one kindred (K313) the pure form of HSP was also mapped to Xq22, this raises the issue as to whether a pure form of HSP exists that is allelic to X-linked complicated HSP (SPG2) and PMD. To answer this question, we carried out linkage analysis in a new pedigree with pure HSP (K101) and refined linkage in pedigree K313. The PLP gene was also screened for mutation by direct sequencing and reverse-transcriptase polymerase chain reaction (RT-PCR). In both families, the disease locus mapped to Xq22 with Lod scores at zero recombination of 5.3 for COL4A5 2B6 in K313 and 2.4 for DXS101 in K101. A T to C transition in exon 5 of the PLP gene was identified from affected individuals of K313. This transition causes a Ser to Pro mutation in the major extracellular loop of PLP/DM20. This finding demonstrates that a form of X-linked pure spastic paraplegia, X-linked complicated HSP (SPG2) and PMD are allelic disorders. There was no evidence of mutations in either coding sequences or the intron/exon junctions of PLP in pedigree K101, suggesting that the disease-producing mutation may be in the noncoding portions of PLP or in a nearby gene.
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PMID:Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. 878 Jan 1

We report a G-->A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical picture resembles somewhat that of X-linked spastic paraplegia (SPG). It differs from this and both the classical and connatal forms of PMD in that it is relatively mild in form, onset is delayed beyond age 2 years, nystagmus is absent, tremors are prominent, mental retardation is not severe, some patients show dementia or personality disorders, the disease is progressive rather than static in some, and several females show signs of disease. The nonsense mutation, which is in exon 3B, should block the synthesis of normal PLP but spare DM20, the isoform whose persistence has been associated with mild forms of PLP-associated disease in both humans and mice.
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PMID:Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease. 905 47


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