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)

Two males suffering from Pelizaeus-Merzbacher disease were examined, one at the age of 1 year 4 months and at the age of 7 years, and the other at the age of 7 years 8 months. The former had spontaneous vertical pendular nystagmus. He also showed horizontal "micronystagmus", present only at the age of 1 year, which might be similar to "voluntary nystagmus". Both males had jerky bilateral gaze-evoked nystagmus, defective smooth pursuit and optokinetic responses and a hyporeactive vestibulo-ocular reflex (VOR). All three obligate carriers exhibited typical VOR disinhibition in the two horizontal nystagmus directions, which may be a distinctive feature. This feature was also found in one of the 7 possible carriers examined and was not observed in the 3 non-affected males, who had normal oculomotor responses.
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PMID:Oculomotor and vestibular anomalies in Pelizaeus-Merzbacher disease: a study on a kindred with 2 affected and 3 normal males, 3 obligate and 8 possible carriers. 146 51

The clinical features and investigation results of 7 patients with Pelizaeus-Merzbacher disease (PMD) are described; one patient had a brain biopsy and two patients had an autopsy. This paper tries to differentiate the clinical features of the connatal and classical types of PMD. Transient stridor and nystagmus were early signs in both types of PMD. Our findings support the view that the more severe connatal form shows rapid neurological deterioration from an early age leading to death usually in the first decade. In younger patients in whom the evolution is still unclear, severe feeding problems and extrapyramidal features may suggest the connatal form. By contrast, in the classical form of PMD, cerebellar signs and cognitive deterioration are more prominent with a more slowly progressive course. Nuclear magnetic resonance imaging and brainstem auditory evoked potentials were very helpful in supporting the diagnosis of PMD either in a known affected family or in sporadic cases, but were not useful in distinguishing between the two types of PMD. Genetic counseling in this condition is difficult, particularly in the connatal form in which inheritance may be either X-linked or autosomal recessive.
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PMID:Pelizaeus-Merzbacher disease: classical or connatal? 185 97

Magnetic search-coil oculography of three brothers with clinically diagnosed Pelizaeus-Merzbacher disease disclosed the presence of binocular elliptical pendular nystagmus in two patients in whom the waveform of the nystagmus was not obvious on inspection. This study, the first reported application of high-resolution oculography to Pelizaeus-Merzbacher disease, also demonstrated primary position upbeat nystagmus in all three patients. The importance of finding this combination of elliptical pendular and upbeat nystagmus is that it is not described in any other childhood neurodegenerative states and, in combination with supportive clinical history and magnetic resonance imaging, may be so characteristic of Pelizaeus-Merzbacher disease that a strong presumptive diagnosis can be made.
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PMID:Nystagmus of Pelizaeus-Merzbacher disease. A magnetic search-coil study. 198 31

The lesions of the cerebral white matter which characterize Pelizaeus-Merzbacher disease are classically observed at pathological examination. An early diagnosis can now be obtained by magnetic resonance imaging (MRI). In an eutrophic first son born at term, stridor, nystagmus-like eye movements and axial hypotonia were noted immediately after birth and pyramidal signs appeared at 2 months, the only extra-clinical finding at that age being prolonged latencies of evoked visual potentials. An MRI exploration, performed at 3 months, showed that compared with the grey matter the white matter emitted a low-intensity signal on the T1-weighted sequence and a high-intensity signal on the T2-weighted sequence (signal inversion), such diffuse and symmetrical MRI abnormalities being typical of dysmyelination. When combined with suggestive clinical signs, these abnormalities confirm the diagnosis of Pelizaeus-Merzbacher disease, even in the absence of a familial history, and make it possible to warn the parents of the poor prognosis and the risk of recurrence among future sons.
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PMID:Pelizaeus-Merzbacher disease. Contribution of magnetic resonance imaging to an early diagnosis. 228 44

An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and spasticity. There was nearly complete absence of central myelin with preservation of peripheral myelin. The 17 reported patients with connatal Pelizaeus-Merzbacher disease are summarized. Evidence of autosomal recessive inheritance is provided by our patient, 3 previously described girls, and 1 family with both boys and girls affected equally. This possible form of inheritance is important to consider in genetic counseling.
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PMID:Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form. 350 78

Two sisters who manifested downbeat nystagmus at the early stage of leukodystrophy are reported. The younger sister whose onset was at the age of 20, deteriorated rapidly to the vegetative state, and died of acute pneumonia 7 years after. Her downbeat nystagmus was observed only during the early 2 years of the course of her disease. The histopathological study on her brain enabled a diagnosis of sudanophilic leukodystrophy which demonstrated overall gliosis of white matter in the cerebrum and severe depopulation of Purkinje cells in the cerebellum, particularly in the vermis. The elder sister's onset was at the age of 29 and deteriorated rapidly to akinetic mutism. Her downbeat nystagmus was observed only during the first year of the course of her disease. For over 10 years she has been at the vegetative state. CT-scan of her brain demonstrates low density areas in the white matter of the cerebrum and in the vermis of the cerebellum. These two cases showed similar clinical signs and courses of their diseases, which were spontaneous nystagmus, early changes of personality and intelligence, and extra-pyramidal sign and later rapid deterioration of the stage of akinetic mutism. Histopathologically these cases are suspected as having an identical hereditary etiology of sudanophilic leukodystrophy. In these cases it is noted that downbeat nystagmus was the early sign of the disease.
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PMID:Spontaneous downbeat nystagmus in two sisters with sudanophilic leukodystrophy. 382 50

After a review of the literature concerning hereditary cases of cerebral palsy, a family is reported in which ataxic diplegia appears to be inherited as a sex-linked and probably recessive condition occurring in 3 males in successive generations. This ataxic diplegia, occurring after an unremarkable perinatal course, is associated with mild to moderate mental retardation, congenitial nystagmus and significantly small stature and prevents the acquisition of free walking. Associated extrapyramidal features may gradually become more marked, while the nystagmus may subside. The condition is similar to that described in three previous reports in the literature. No evidence of linkage with other sex-linked disorders has been found, Xga typing showed that recombination between the Xg locus and the locus for hereditary ataxic deplegia has occurred once out of three possible opportunities. In the absence of neuropathological findings or specific biochemical tests, the differential diagnosis from Pelizaeus-Merzbacher disease cannot be made with certainty. The differentiation from other progressive sex-linked neurological disorders is discussed.
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PMID:Sex-linked hereditary ataxic deplegia, the borderland between cerebral palsy and Pelizaeus-Merzbacher disease. 444 87

Pelizaeus-Merzbacher disease is a rare sex-linked recessive neurological disorder. It presents with a slowly progressive neurological deterioration. It is liable to be misdiagnosed as cerebral palsy. A family history of similar disease is a clue to the diagnosis. A patient with this condition has been followed over many years. Nystagmus was noted to be present shortly after birth. Audiovestibular investigations were performed. All tests of peripheral hearing were normal. ABR indicated abnormal brainstem conduction. Several electronystagmographic abnormalities were present. These were of a central type. They included failure of fixation suppression, poor smooth pursuit, and impaired performance of optokinetic nystagmus at high stripe speeds. During caloric-induced nystagmus an excessively prolonged slow phase of nystagmus with wide eye excursions was seen. We have not seen this feature in any other diseases and we suggest it may be specific for this syndrome.
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PMID:Vestibular studies in Pelizaeus-Merzbacher disease. 666 62

Clinical, neuropathological and molecular genetic studies in a 9 month old boy with Pelizaeus-Merzbacher disease are described. The principal clinical features were developmental delay, nystagmus, stridor and seizures. Both brain and spinal cord showed almost complete absence of stainable central myelin, while cranial and spinal root myelin was preserved. Probes for cDNA in the boy and his asymptomatic mother indicated an increase in the dosage of proteolipid protein gene (of at least twofold) compared with controls.
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PMID:A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. 754

Four patients with the classic form and 1 patient with the connatal form of Pelizaeus-Merzbacher disease were studied with magnetic resonance imaging, electroencephalography, and multimodal evoked potentials, including brainstem auditory evoked potentials, somatosensory evoked potentials, and visual evoked potentials. Comparisons between these findings were made. It was determined that the neurophysiologic studies, particularly brainstem auditory evoked potentials, are of value in early diagnosis of Pelizaeus-Merzbacher disease; brainstem auditory evoked potentials with only normal wave I may be a relatively reliable clue suggesting the classic form of Pelizaeus-Merzbacher disease in patients with nystagmus and chronic progressive encephalopathy. Magnetic resonance imaging allows an accurate assessment of the degree of hypomyelination; however, the clinical severity of various forms of Pelizaeus-Merzbacher disease seemed to be independent of the age of onset and the amount of residual myelin. The following may be distinguishing features between the connatal and classic forms of Pelizaeus-Merzbacher disease: hypoplasia of the cerebellum and brainstem, and diffuse brain atrophy on magnetic resonance imaging; optic atrophy with abnormal visual evoked potential; seizure disorder with abnormal electroencephalography, and/or auditory nerve impairment with abnormal wave I of brainstem auditory evoked potentials in the early stage of the disease.
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PMID:Neurophysiologic studies and MRI in Pelizaeus-Merzbacher disease: comparison of classic and connatal forms. 774 60


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