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Biomedical subjects

M Tabaton

Publications and source records attributed to M Tabaton.

89 records · Page 5Linked to original sources
PubMed1986

Peripheral neuropathy in Cockayne syndrome.

Two siblings with Cockayne syndrome are reported. In one case a sural nerve biopsy showed a demyelinating peripheral neuropathy with occasional inclusions in Schwann cells made up of electron dense finely granular material intermingled with vacuoles or lamellar structures. The significance, if any, of this accumulated material remains unclear. The presence, in addition, of small finely lamellar intra-axonal osmiophilic bodies suggests an associated axonal involvement.

Child↗
PubMed1986

Complete bilateral relapsing ophthalmoplegia in a diabetic patient with a sensory-motor distal polyneuropathy.

The clinicopathological study of a case of relapsing complete bilateral external ophthalmoplegia associated with a sensory-motor polyneuropathy is presented. No other causes apart from diabetes mellitus were ascertained. The sural biopsy demonstrated an axonal as well as demyelinating neuropathy. The physiopathology of the rare cases of diabetic multiple bilateral cranial nerve palsies is discussed.

Aged↗
PubMed1985

A quantitative and ultrastructural study of substantia nigra and nucleus centralis superior in Alzheimer's disease.

In four patients with presenile Alzheimer's disease (AD) and three age-matched controls a quantitative study of neurons and neurofibrillary tangles (NFT) in the substantia nigra (SN) and nucleus centralis superior (NCS) was performed. A significant neuronal loss, similar in both nuclei, was found in AD cases, while the incidence of NFT was remarkably higher in NCS. Moreover, no significant correlation between neuronal loss and number of NFT was detected. An electron-microscopic study revealed that the subcortical NFT in NCS are made up of paired helical filaments in spite of their globose round shape.

Aged↗
PubMed1985

Polyglucosan bodies in the sural nerve of a diabetic patient with polyneuropathy.

In the sural nerve of a 62-year-old woman with impaired glucose tolerance test and polyneuropathy, many intra-axonal polyglucosan bodies were observed. Polyglucosan bodies have been described in spontaneously or alloxan-diabetic rats, but are not usually observed in human diabetic neuropathy. Since intra-axonal polyglucosan bodies can occur in the sural nerve in various diseases and in aging, they are considered as non-specific changes. Their presence is probably related to a primary axonal neuropathy.

Axons↗
PubMed1985

Endothelial mitochondrial content of cerebral cortical capillaries in Alzheimer's disease. An ultrastructural quantitative study.

The mitochondrial content of endothelial cells of cerebral cortical capillaries in patients with Alzheimer's disease and age-matched controls was calculated using stereologic methods. No morphologic abnormalities or quantitative changes in endothelial mitochondria are reported. Our findings do not support the hypothesis of a blood-brain barrier defect in Alzheimer's disease.

Alzheimer Disease↗
PubMed1984

Huntington's disease: survival of large striatal neurons in the rigid variant.

A morphometric method was employed to investigate the relationship of rigidity and hyperkinesia to the degree of striatal and nigral nerve cell loss in one patient with the rigid variant of Huntington's disease and four patients with hyperkinetic chorea. Both striatal neuron populations, small and medium-sized neurons and large neurons, were affected in the patients with hyperkinetic chorea, whereas the large neurons were preserved in the patient with the rigid variant. The substantia nigra was slightly involved in each patient. The findings suggest that the rigid variant of Huntington's disease may reflect the unbalanced activity of residual, mostly large, striatal neurons, inhibiting the substantia nigra.

Aged↗
PubMed1984

Periodic lateralized discharges in Creutzfeldt-Jakob disease: serial electroencephalographic studies.

Serial EEG recordings in 12 cases of Creutzfeldt-Jakob disease were analyzed. Focal abnormalities, consisting of unspecific slowing of the rhythm or periodic lateralized discharges (PLD), were observed in 50% of cases in the prodromal stage. As the disease progressed, conversion of unspecific focal alterations into PLD and of these into generalized periodic patterns was seen. This evolution and the correlation between PLD and focal epileptic phenomena suggest that the discharges are cortical in nature.

Adult↗
PubMed1983

Skin fibroblasts in Huntington's disease. An electron microscopic study.

Cultured skin fibroblasts of 3 patients with Huntington's disease (HD) and of 3 normal individuals have been examined by electron microscopy during the log phase of growth and at confluence. Though HD fibroblasts achieve higher maximal densities than controls, this is not associated with abnormal ultrastructural aspects of the cells. In particular, microfilaments and microtubules are identical in HD and normal fibroblasts.

Adult↗
PubMedDate not supplied

A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene).

Fatal familial insomnia (FFI) is a subacute dementing illness originally described in 1986. The phenotypic characteristics of this disease include progressive untreatable insomnia, dysautonomia, endocrine and motor disorders, preferential hypometabolism in the thalamus as determined by PET scanning, and selective thalamic atrophy. These characteristics readily distinguish FFI from other previously described neurodegenerative conditions. Recently, FFI was shown to be linked to a mutation in the prion protein gene (PRNP) at codon 178, which results in the substitution of asparagine for aspartic acid. As such, FFI represents the most recent addition to the growing family of prion protein-related diseases. The mutation that results in FFI had previously been linked to a subtype of familial Creutzfeld-Jakob disease (178Asn CJD). The genotypic basis for the difference between FFI and 178AsnCJD lies in a polymorphism at codon 129 of the mutant prion protein gene: 129Met 178Asn results in FFI, 129Val 178Asn in CJD. The finding that the combination of a polymorphism and a single pathogenic mutation result in two distinct conditions represents a significant advance in our understanding of phenotypic variability.

Amino Acid Sequence↗