30 Result(s)
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Article
Electrocardiographic abnormalities in Leber's hereditary optic atrophy
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Chapter
Adrenomyeloneurodystrophy with Late Cerebral Involvement and Evidence of a Multiple Autoimmune Disorder
The classical form of adrenoleukodystrophy (ALD; McKusick 20237) has infantile onset. Adrenomyeloneurodystrophy (AMN), having genetic, biochemical and ultrastructural features closely correlated to those of AL...
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Chapter
Infanto-Juvenile Encephaloneuropathy and Pigmentary Retinopathy in a Girl Associated with Congenital Adrenal Insufficiency and Altered Plasma Medium-Chain Fatty Acid Levels
The combination of adrenocortical insufficiency, pigmentary retinopathy, seizures, peripheral neuropathy and hepatomegaly was first reported by Dyck et al. (1981) in two male subjects and was associated with decr...
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Chapter
Histochemical, Ultrastructural and Biochemical Study of Muscle Mitochondria in Leber’s Hereditary Optic Atrophy
Leber’s hereditary optic atrophy (McKusick 30890) is characterized by severe abiotrophy of the pregeniculate optic pathway with acute onset in young adults, often without any other neurological symptoms. Most ...
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Chapter
Morphometric and Biochemical Study of Muscle Mitochondria in Adult Chronic Progressive External Ophthalmoplegia
Adult chronic progressive external ophthalmoplegia (ACPEO) is characterized by slowly progressive paralysis of the extraocular muscles, with or without other neurological manifestations. The presence of ragged...
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Article
Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegia
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Article
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder
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Article
Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels
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Article
Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy
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Article
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778
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Article
Detection of β-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren)
Muscle biopsy tissue from a patient affected by the juvenile form of neuronal ceroid lipofuscinosis (NCL) was studied immunohistochemically using antibodies to β-amyloid peptide and amyloid precursor protein....
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Article
Neurological involvement and quadricuspid aortic valve in a patient with Ehlers-Danlos syndrome
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Article
Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease
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Article
Genetic leukoencephalopathies with unknown metabolic pathogenesis
The authors describe the principal forms of genetic leucodystrophies with unknown metabolic pathogenesis, indicating their main clinical signs and the new findings concerning the molecular genetic that are us...
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Article
Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings
Cerebrontendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease involving lipid metabolism. The classical phenotype is characterized by neurological dysfunction, tendon xanthomas and...
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Article
Wilson’s disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
Wilson’s disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expresse...
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Article
Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDH apheresis
The concentrations of serum cholesterol, cholestanol and non–cholesterol sterols were measured in a patient with cerebrotendinous xanthomatosis under different therapeutic regimens. During treatment with chen...
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Article
The spectrum of mutations for CADASIL diagnosis
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations of the Notch3 gene at the chromosome locus 19p13. T...
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Article
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage
Progressive lung infiltration is a major cause of death in Niemann–Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We repo...
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Article
Typical pathological changes of CADASIL in the optic nerve
Visual impairment due to retinal and optic nerve changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is more common than previously thought. Deposits...
