pelizaeus-merzbacher disease/seizures

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A distinct phenotype of childhood leukodystrophy presenting as absence seizure.

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Leukoencephalopathy refers to any disease of the white matter including hereditary as well as acquired and toxic causes. Inherited leukodystrophies are diseases of myelin including abnormal myelin development, hypomyelination, or degeneration of myelin. We report a 6-year old female who presented

Partial seizures in two cases of metachromatic leukodystrophy: electrophysiologic and neuroradiologic findings.

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This report concerns two cases of metachromatic leukodystrophy presenting partial seizures. One was a 2-year-old boy with a late infantile type and the other a 17-year-old girl with a juvenile type. The former had tonic-clonic seizures on the left with concomitant twitching of the left side of the

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.

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OBJECTIVE Loss of function of the astrocyte-specific protein MLC1 leads to the childhood-onset leukodystrophy "megalencephalic leukoencephalopathy with subcortical cysts" (MLC). Studies on isolated cells show a role for MLC1 in astrocyte volume regulation and suggest that disturbed brain ion and

Personality traits in psychogenic nonepileptic seizures (PNES) and psychogenic movement disorder (PMD): Neuroticism and perfectionism.

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Psychogenic movement disorder (PMD) and psychogenic nonepileptic seizures (PNES) are two subtypes of conversion disorder (CD). In this case-control study, we asked whether these subtypes varied as a function of personality and history of childhood abuse. Fifty-nine patients with PMD from the Human

A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A.

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Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of a lysosomal enzyme arylsulfatase A (ARSA) activity. The absence or deficiency of arylsulfatase a leads to accumulation of cerebroside sulfate within the myelinseath of the central nervous system (CNS)

Shetland Sheepdog leukodystrophy.

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Three litters of Shetland Sheepdog pups born to the same bitch and 2 different sires were studied because of uncontrollable seizures or progressive neurologic dysfunction. Four pups from the 1st litter, 1 from the 2nd litter, and 4 from the 3rd litter had severe diffuse spongy degeneration of the

A 5-year-old male child with late infantile metachromatic leukodystrophy: a case report.

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Metachromatic leukodystrophy is a rare disorder of myelin metabolism. This degenerative disorder results from the accumulation of cerebroside sulfatide within the myelin sheath of central and peripheral nervous system, due to deficiency of aryl sulfatase A enzyme. We report a 5-year-old male child,

Pigmentary type of orthochromatic leukodystrophy with early onset and protracted course.

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The pigmentary type of orthochromatic leukodystrophy (OLD) is a rare disorder in adults; only one questionable childhood case has been observed. We report the sporadic case of a male aged 26 years with early onset and protracted course. He presented retarded motor development from birth with ataxic

The dominant form of the pigmentary orthochromatic leukodystrophy.

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The present report documents a family with three cases in two successive generations of pigmentary orthochromatic leukodystrophy (POLD). The clinical features of these cases and histochemical and ultrastructural investigations of two of the brains from successive generations are discussed. A review

[Two siblings with metachromatic leukodystrophy of adult and juvenile onset].

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We reported two siblings with metachromatic leukodystrophy of adult and juvenile onset. Patient 1, a 24-year-old female had been unremarkable until 23 years, when she began to develop loss of spontaneity, bradykinesia and gait disturbance. Nine months later, she became unable to walk and mentally

Dementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophy.

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An unusual case of very-late-onset metachromatic leukodystrophy (MLD) with dementia was studied. The patient was a 41-year-old male who presented with mild dementia and a single generalized tonic clonic seizure. Neuropsychological assessment demonstrated mild amnesia, visuospatial dysfunction and

[The mouse mutant "Jimpy". Animal model of leukodystrophy].

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The Jimpy mouse is an x-linked recessive mutation of the house mouse resulting a myelin deficiency in the central nervous system. It is of interest as an animal model of human leukodystrophy. Clinical symptoms include ataxia and tremor as initial signs, followed by tonic-clonic convulsions

Comparison of psychogenic movement disorders and psychogenic nonepileptic seizures: is phenotype clinically important?

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BACKGROUND Psychogenic non-epileptic seizures (PNES) and psychogenic movement disorders (PMDs) are common in neurology practice, yet it is not established whether clinically relevant differences between these two groups exist. METHODS In this retrospective chart review 172 patients were identified

Psychogenic seizures and psychogenic movement disorders: are they the same patients?

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Psychogenic nonepileptic seizures (PNES) and psychogenic movement disorders (PMD) are common and disabling problems with abnormal psychological profiles, and they may have common features that could aid in better understanding and management. Since PNES and PMD are investigated and reported

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.

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Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM:

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