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.

[Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].

Charcot-Marie-Tooth type X disease (CMTX) is the second most frequent inherited neuropathy, after CMT1A type associated with 17p11.2-p12 duplication. CMTX is inherited as X dominant trait and is caused by point mutations in Cx32 gene.

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.

[Genotype-phenotype correlation in hereditary motor-sensory neuropathy type IA associated with duplication in chromosome 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.

[The role of molecular genetics in diagnosis of hereditary motor-sensory neuropathy].

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.

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.

[Subacute sensory neuronopathy with signs of involvement of anterior horn cells in a patient with small cell lung carcinoma (case report)].

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.

[Vascular ischemic dementia].

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.

[Foix-Chavany-Marie syndrome].

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].

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.

[Arterial hypertension, diabetes and cardiac arrhythmias as risk factor in reversible and completed ischemic stroke].

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.

[Some epidemiologic and clinical problems in ischemic cerebral stroke].

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.

[Sensorimotor hereditary neuropathy. IV. Clinical, electrophysiologic and histologic correlations. Summary of studies].

On the basis of a material comprising 53 cases of sensorimotor hereditary neuropathy from 40 families the authors discuss the results of studies on the clinico-electrophysiological-histological correlations. The electrophysiological and histological studies demonstrated the validity of separation of this disease into two types according to the criteria given by Harding and Thomas. No significant differences were found in the clinical manifestations between type I and type II of the disease.

[Motor-sensory hereditary neuropathy. III. Histological changes].

The authors describe the results of histological examinations of the sural nerve in 40 cases of sensorimotor hereditary neuropathy. A comparison of the morphological findings with the values of conduction velocity showed that all cases with "primary demyelination" belonged to the I type of this neuropathy (with conduction velocity under 38 m/sec) while those with axonal changes (and conduction velocity over 38 m/sec) belonged to type II. In 2 cases the degree of demyelination and axonal changes was similar, but the electrophysiological criteria failed to correspond to those of the "intermediate" type.

[Hereditary motor-sensory neuropathy. II. Electrophysiological studies].

Electrophysiological parameters (conduction velocity, distal latency, amplitude of evoked response) were analysed in two types of sensorimotor hereditary neuropathy isolated on the ground of the values of motor conduction velocity in the median nerve which was 38 m/sec. Using this criterion the studied material of 53 cases could be divided into two groups. Group I of 34 cases in which the mean conduction velocity in the median nerve was 16.