Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

Charcot-Marie-Tooth disease type 1B (CMT1B) is a demyelinating neuropathy inherited as an autosomal dominant trait. The majority of CMT1B cases are caused by mutations in the myelin protein zero (P0) gene (MPZ). Only a few mutations in MPZ gene have been reported to be associated with focally folded myelin sheaths. We have studied five patients from one family with five generations, affected by CMT1B disease. The morphological studies of sural nerve biopsy performed in the proband revealed fibers with focally folded myelin. DNA sequencing analysis showed the Asn131Lys mutation in the MPZ gene in three members of the affected family.

Factor V Leiden, prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase C677T genotype in young adults with ischemic stroke.

Ischemic stroke in young adults is a well-known disease, but despite extensive clinical and laboratory investigations, its etiology remains unclear in approximately half of the cases. We examined the prevalence of factor V Leiden, the prothrombin G20210A genotype, and the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in 100 patients (51 males and 49 females) who survived an ischemic stroke without a cardiac embolic source at an age < or = 45 years, and in 238 healthy control subjects from the same geographic area. The patients were selected for study only if the diagnosis of stroke was documented by computed tomography scan or nuclear magnetic resonance (NMR) of the brain, or both. Heterozygosity for the FV Leiden mutation was found in 3 patients (3.0%) and in 10 control subjects (4.2%). Two patients (2.0%) and five control subjects (2.1%) were heterozygous for the prothrombin G20210A mutation. The frequencies of the MTHFR 677TT, CT, and CC genotypes in the patient group were 12%, 37%, and 51%, respectively, and were not significantly different from those in control subjects (11%, 40%, and 49%, respectively). In conclusion, our results indicate that FV Leiden mutation, prothrombin G20210A genotype, and homozygosity for the C677T mutation in the MTHFR gene are not associated with an increased risk for ischemic stroke in young adults.

[Genotype-phenotype correlation in hereditary motor-sensory neuropathy type IA associated with duplication in chromosome 17p11.2-12]. / Korelacja genotypowo-fenotypowa w dziedzicznej neuropatii ruchowo-czuciowej typu I A zwiazanej z duplikacja w chromosomie 17p11.2-12.

Results of clinical, electrophysiological and morphological examination, were presented in 19 patients from 8 families with hereditary motor-sensory neuropathy type I (HMSN type I) with 17p11.2-12 duplication (i.e. CMT IA). The course of the disease was rather mild, slowly progressive. Generalized demyelinating lesion of peripheral nerves was found on EMG examination, with median nerve conduction velocity between 10-20 m/s and very prolonged F wave latency. Sural nerve biopsy was characteristic of chronic demyelinating process. Phenotypic characteristics of our HMSN type I patients shows clinical, electrophysiological and morphological homogeneity, however there are some data from literature indicating possibility of intrafamilial and interfamilial variability.

[The role of molecular genetics in diagnosis of hereditary motor-sensory neuropathy]. / Miejsce genetyki molekularnej w diagnostyce dziedzicznych neuropatii ruchowo-czuciowych.

Hereditary motor-sensory neuropathies (HMSN) are a heterogeneous group of disorders of peripheral nervous system. Four genes in HMSN have been characterized so far i.e.: PMP22, MPZ, Cx32 and EGR-2. The advent of molecular genetic techniques over the past few years has provided identification of molecular defects in a few forms of HMSN. The present study describes the application of modern molecular genetic methods, which are used in the studies of HMSN. Southern blot hybridisation, Fluorescence in situ hybridisation (FISH), Short Tandem Repeat analysis (STR), Semiquantitative PCR analysis (SQ-PCR), Single Strand Conformation Polymorphism method (SSCP), Heteroduplex analysis (HD) and finally DNA automated sequencing are described in the present paper. In the conclusions the advantages and limits of mentioned methods of DNA analysis in HMSN have been described.

[Subacute sensory neuronopathy with signs of involvement of anterior horn cells in a patient with small cell lung carcinoma (case report)]. / Podostra neuronopatia czuciowa z objawami uszkodzenia komórek ruchowych rogów przednich w raku drobnokomórkowym pluc (z opisem przypadku).

A 55 years old woman with small-cell lung carcinoma is described. Ten months after the diagnosis was established, subacute sensory neuronopathy with the signs of involvement of anterior horn cells (confirmed by EMG exam) occurred. Since neurological symptoms appeared at the time when anti-cancer treatment was ceased, the diagnosis of paraneoplastic lesion peripheral nervous system was established. Biopsy of sural nerve obtained 3 months after the onset of neurological signs showed nearly complete loss of normal looking myelinated fibers due to the process of axonal degeneration with relatively better preserved unmyelinated fibers. The patient died after 1 year and 2 months from the beginning of the disease because of metastatic tumours in the brain.

Uncompacted myelin in hereditary neuropathy with liability to pressure palsies with the 17 p11.2 deletion.

A 16-year-old girl with a typical features of hereditary neuropathy with liability to pressure palsies (HNPP) and deletion on chromosome 17p11.2 was described. In the mother who was asymptomatic the same genetic defect was found. In a sural nerve biopsy obtained from the girl myelin thickenings characteristic for this disease and de- and remyelination in nerve fibers were found. Special attention was paid to the occurrence of uncompacted myelin, which was present in diffuse and focal forms. It is concluded that high amount of uncompacted myelin is characteristic for HNPP and it is probably related to the under-expression of peripheral myelin protein 22.

[Vascular ischemic dementia]. / Otepienia naczyniopochodne, niedokrwienne.

Observations are reported of the course and other interrelations between clinical pattern and computer tomography results in 36 patients with vascular ischaemic dementia. Attention is called to the frequency of transient dementia-like disturbances following stroke and to the importance of the middle gyrus of the left frontal lobe in the development of dementia manifestations. In cases with slow progression of dementia symptoms and only scant neurological signs not infrequently long-standing improvement or even complete remission of dementia symptoms occur which sets them apart from mixed forms of dementia. The problem of the occurrence of isolated dementia syndromes of sudden onset is discussed and for them the term "stroke with dementia" is proposed.

[Foix-Chavany-Marie syndrome]. / Zespól Foix-Chavany-Marie.

A patient aged 54 with Foix-Chavany-Marie syndrome is described. The syndrome is characterized by facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation. The cause of the disease were bilaterally located infarcts within internal capsule.

[The role of sodium serum level disturbances in the development of central pontine myelinolysis]. / Rola zaburzen gospodarki sodowej w powstawaniu mielinolizy srodkowej mostu (z opisem przypadku).

Central pontine myelinolysis now is believed to be a polyetiological syndrome. Our case was diagnosed clinically due to typical neurological symptoms occurred in the course of the treatment hyponatraemia and hypokaliaemia. Forty six years old woman an alcohol abuser, with liver dysfunction was admitted to neurological department in the first grand mall attack. She was tetraplegic, with signs of alcoholic polyneuropathy simultaneously hyponatraemia and hypokaliaemia were observed. Two weeks after normalization of electrolytic alterations, symptoms of brain stem lesion appeared. Based on MRI and clinical symptoms the diagnosis of central pontine myelinolysis was suggested and proved on autopsy. Electrolytic disturbances and treatment are discussed.

[Arterial hypertension, diabetes and cardiac arrhythmias as risk factor in reversible and completed ischemic stroke]. / Nadcisnienie tetnicze, cukrzyca i zaburzenia rytmu serca jako niezalezne czynniki ryzyka w odwracalnych i dokonanych niedokrwiennych udarach mózgu.

The aim of the study was to establish the role of arterial hypertension, diabetes and cardiac arrhythmias as the risk factors for ischaemic stroke (IS), considering the type of stroke (RIND and completed stroke) and age. The statistical methods commonly.

Creutzfeldt-Jakob disease in young people.

Three neuropathologically confirmed cases of Creutzfeldt-Jakob disease in young people (19, 23, and 27 years of age) are described. None had received pituitary hormone therapy. At the onset of illness all patients were suspected of having SSPE or other viral encephalitis, because of the similarity of clinical symptomatology and the shift towards older age of SSPE onsets observed in Poland in recent years.

Progressive myopathy in hyperkalemic periodic paralysis.

A progressive degenerative myopathy has been well described in hypokalemic periodic paralysis but is not as widely recognized in hyperkalemic periodic paralysis. We studied four families with the latter disease in which some members developed a progressive myopathy. Episodes of paralysis were prolonged, lasting for months in some cases, and in one case paralysis was sufficiently severe to require ventilatory support. The progressive myopathy tended to develop at a time when attacks of paralysis were decreasing in frequency. Muscle biopsy specimens showed variability in fiber size, internal nuclei, and fibers with vacuoles. Electron microscopy showed myofibrillary degeneration and tubular aggregates. An abnormal biopsy specimen was more common in older patients. Our experience suggests that a progressive myopathy is as common in hyperkalemic periodic paralysis as it is in the hypokalemic disorder.

[Some epidemiologic and clinical problems in ischemic cerebral stroke]. / Niektóre zagadnienia epidemiologiczne i kliniczne niedokrwiennych udarów mózgu.

The study involved 739 patients with the ischemic cerebral stroke into two groups: with reversible and irreversible ischemic cerebral stroke. General characteristics of patients (incidence, sex, age etc.) was similar to the characteristics of patients from other centres. Morbidity rate for ischemic cerebral strokes was 93.9, including reversible stroke 21.3 and other 72.6; mortality factor 47.2, and mortality rate 29.6%. An increase in morbidity for irreversible stroke in women over 80 years of age is striking. The authors suggest that the classification of cerebral strokes should include reversible strokes whereas progressive stroke should not be considered distinguished entity.