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)

Multiple sclerosis, is an idiopathic inflammatory disease of the central nervous system. Symptoms rarely begin before age 10 or after age 60.The presentation may vary from isolated motor or sensory impairment to seizures or psychotic disturbances. This case report presents a 7-year-old male who complained of double vision, paralysis of the right face and imbalance. At that time the patient had supranuclear facial palsy, mild ataxia, diplopia and horizontal nystagmus. Head CT scan showed nodular densities with low attenuation areas in the white matter of the left frontal and left parietal lobes compatible with multiple sclerosis. At 12 years of age the patient presented dizziness, diplopia, and weakness of right extremities. At 24 years of age he developed seizures and visual and auditory hallucinations. By age 28 the patient was admitted with a sudden onset of paraparesis. Extensive subcortical and periventricular white matter changes were demonstrated by MRI on February 7, 2004. This case, with symptoms beginning at a very young age, demonstrates a wide range of the presentations of multiple sclerosis: motor impairments, seizures and hallucinations.
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PMID:Multiple sclerosis originating in childhood associated with seizures and hallucinations. 1961 May 59

A 47-year-old man with a 15-year history of bipolar disorder treated with anti-depressants, lithium carbonate or neuroleptics was admitted because of marked difficulty in gait and speech. At the age 45, he was unable to walk without bilateral assists and became a wheel-chair state. There was no family history and his mother, father and younger sister were neurologically free. General physical examinations revealed no abnormalities. Neurologically, he was moderately demented (mini mental state examination: 18/30) and showed bilateral horizontal gaze nystagmus, parkinsonism, cerebellar ataxia, dysarthria and moderate spastic paraparesis. No involuntary movements were noted. Wet blood smear showed acanthocytes, while blood chemistries revealed no abnormalities including levels of serum creatine kinase, hepatic enzymes and blood beta-lipoprotein. Kell antigen expressions of the red blood cells were within normal limit. Western blot analysis with anti-chorein antibody detected normal chorein expression levels of the red blood cells. Cranial MRI showed severe symmetric atrophy of the frontotemporal lobes, caudate nuclei, putamen, and brainstem. Also, MRI-gradient echo showed symmetric iron accumulation in the medial portion of the globus pallidus without surrounding high intensity areas, so called "eye-of-the-tiger sign". Genetic analyses revealed no mutations in the PANK2 and PLA2G6 genes. Therefore, he was diagnosed as idiopathic neurodegeneration with brain iron accumulation (NBIA). These findings suggest that NBIA is heterogeneous and other additional genes remain to be found.
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PMID:[Adult-onset case of idiopathic neurodegeneration with brain iron accumulation without mutations in the PANK2 and PLA2G6 genes]. 1982 96

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

Konzo is a permanent spastic paraparesis of acute onset attributed to the effect of cyanogenic compounds from insufficiently processed bitter cassava in combination with low protein intake. In all studies of konzo, ophthalmologic complaints have been presented but only recently systematic studies of the neuro-ophthalmologic disturbances in konzo have been done. In this review, we see that about half the patients have an optic neuropathy with decreased visual acuity, alterations of the visual fields, atrophy of the temporal part of the retinal nerve fibre layer linked with temporal pallor of the optic disk. About half of the konzo patients also have abnormal visual evoked potentials, with both delayed latency and reduced amplitude. A small number of konzo patients have an ocular motor disturbance leading to a pendular nystagmus. The severity of the neuro-ophthalmologic involvement is not parallel to the severity of the motor disturbance in konzo. This may suggest that two different pathogenic mechanisms are involved.
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PMID:Neuro-ophthalmologic manifestations of konzo. 2178 17

CNS glia and neurons express connexins, the proteins that form gap junctions in vertebrates. We review the connexins expressed by oligodendrocytes and astrocytes, and discuss their proposed physiologic roles. Of the 21 members of the human connexin family, mutations in three are associated with significant central nervous system manifestations. For each, we review the phenotype and discuss possible mechanisms of disease. Mutations in GJB1, the gene for connexin 32 (Cx32) cause the second most common form of Charcot-Marie-Tooth disease (CMT1X). Though the only consistent phenotype in CMT1X patients is a peripheral demyelinating neuropathy, CNS signs and symptoms have been found in some patients. Recessive mutations in GJC2, the gene for Cx47, are one cause of Pelizaeus-Merzbacher-like disease (PMLD), which is characterized by nystagmus within the first 6 months of life, cerebellar ataxia by 4 years, and spasticity by 6 years of age. MRI imaging shows abnormal myelination. A different recessive GJC2 mutation causes a form of hereditary spastic paraparesis, which is a milder phenotype than PMLD. Dominant mutations in GJA1, the gene for Cx43, cause oculodentodigital dysplasia (ODDD), a pleitropic disorder characterized by oculo-facial abnormalities including micropthalmia, microcornia and hypoplastic nares, syndactyly of the fourth to fifth fingers and dental abnormalities. Neurologic manifestations, including spasticity and gait difficulties, are often but not universally seen. Recessive GJA1 mutations cause Hallermann-Streiff syndrome, a disorder showing substantial overlap with ODDD. This article is part of a Special Issue entitled: The Communicating junctions, composition, structure and functions.
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PMID:Gap junctions in inherited human disorders of the central nervous system. 2187 35

Proteolipid protein 1 (PLP1) gene-related disorders due to mutations in the PLP1 include a wide spectrum of X-linked disorders ranging from severe connatal Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). Duplications, deletions or point mutations in coding and noncoding regions of the PLP1 gene may occur. We report the clinical, neuroradiologic and molecular findings in six patients from two unrelated families. The affected males showed severe mental retardation, spastic tetraparesis, inability of walking and pes cavus at onset in early infancy. Brain magnetic resonance imaging (MRI) showed hypomyelination and brain atrophy. Nystagmus was never observed. The affected females showed adult-onset progressive spastic paraparesis leading to wheel-chair dependency and subtle white matter changes on brain MRI. Molecular studies in the two families identified two different intronic mutations, the novel c.622+2T>C and the known c.622+1G>A, leading to the skipping of PLP1-exon 4. The clinical presentation of the affected males did not consistently fit in any of the PLP1-related disorder subtypes (i.e., connatal or classic PMD, SPG2 and 'PLP1 null syndrome'), and in addition, the carrier females were symptomatic despite the severe clinical picture of their respective probands. This study provides new insight into the genotype-phenotype correlations of patients with PLP1 splice-site mutations.
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PMID:Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping. 2371 21

There have been several reports of disulfiram intoxication, but little evidence of neurologic conditions resulting from disulfiram-induced brain damage combined with Wernicke encephalopathy-associated lesions. We report a rare patient with both Wernicke encephalopathy and disulfiram intoxication. This 50-year-old woman, who was taking disulfiram for chronic alcohol abuse, presented with an acute confusional state, dysarthria, nystagmus, supranuclear ophthalmoplegia, and paraparesis. Biochemical serum and cerebrospinal fluid analyses were normal. An electromyogram detected a motor polyneuropathy. Cognitive assessment revealed severe impairment of memory, attention, and logical and executive abilities. Magnetic resonance imaging with gadolinium enhancement showed brain lesions consistent with Wernicke encephalopathy, but also symmetric hyperintensities on T2-weighted images in the globus pallidus. Stopping the disulfiram and treating with hydration, high-dose thiamine supplements, and benzodiazepines significantly improved the patient's consciousness and oculomotor function. A magnetic resonance imaging scan after 1 month of treatment showed complete disappearance of the brain lesions and the hyperintensities in the globus pallidus. After a further month of intensive neurorehabilitation, the patient was able to interact with the medical staff, and her neuropsychological tests showed only mild memory impairment. Patients with alcoholism who present at emergency departments are at high risk for misdiagnosis, especially because there is no specific routine laboratory test for detecting asymptomatic disulfiram intoxication. Although uncommon, the combination of Wernicke encephalopathy and disulfiram intoxication should be suspected in patients with alcoholism. The disorder can be detected through a careful history and prompt clinical evaluation, together with characteristic magnetic resonance imaging findings.
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PMID:A case of Wernicke encephalopathy combined with disulfiram intoxication. 2381 73

Pelizaeus Merzbacher's Disease is an inherited X-linked recessive trait. Males have the disease, while females are usually carriers. We report the case of a 6-years-old girl who had nystagmus since birth and later on developed head nodding. She started talking at one year and walking at 18 months. Then she developed regression of milestones, with speech impairment and inability to walk which progressively worsened. Before presenting she had a generalised seizure. Her parents were second cousins. Family history was unremarkable. On examination she was awake, alert, there was bilateral horizontal nystagmus. Cranial nerve examination was normal. There was spastic paraparesis with bilateral extensor plantar response. Magnetic resonance imaging of the brain showed classical features of diffuse hypomyelination characteristic of Pelizaeus Merzbacher's Disease for this age group.
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PMID:A rare case of Palizaeus Merzbacher Disease in a female patient diagnosed radiologically. 2583 54


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