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.

A dominant form of neuronal ceroid-lipofuscinosis. An ultrastructural study of sural nerve and peripheral lymphocytes.

The study of the ultrastructure of the sural nerve and peripheral blood lymphocytes of a boy with late-infantile neuronal ceroid-lipofuscinosis revealed the presence of 'curvilinear bodies' and 'fingerprint profiles'. The elder sister of the patient died at the age of 7 years after progressive mental and motor deterioration. The same kind of cytoplasmic inclusions was found in the lymphocytes of the father of these children, who had had epilepsy since the age of 32. Clinical data and the results of the ultrastructural study suggest that in the same family two different forms of ceroid-lipofuscinosis appear and that the disease is inherited as an autosomal dominant trait. This family seems to suggest the nosological unity of clinically different forms of ceroid-lipofuscinosis.

Nerve conduction in the Guillain-Barré-Strohl syndrome.

Fifty cases of the Guillain-Barré-Strohl syndrome were investigated clinically and electrophysiologically--20 in the acute phase, and 30, as a matter of followup, many years after. The sural nerve was biopsied in six cases. There was no evident correlation between clinical symptoms and slowing of motor and sensory conduction. Nerve conduction velocity became slower after the beginning of clinical improvement. The electrophysiological abnormalities concerned both sensory and motor fibers despite the frequent absence of clinical sensory manifestations. The so-called long nerves were involved earlier and more markedly than the so-called short nerves. Conduction velocity and distal latency were equally affected. A slight electrophysiological defect was noticeable even many years after the acute phase of the syndrome, in completely symptoms free patients. Some correlation existed between conduction velocity changes and histological findings.

Recessive hereditary sensory neuropathy.

Clinical features in 2 cases of a recessive form of hereditary sensory neuropathy and the light and electron microscopy of sural nerve biopsy in 1 of them are described. The patients showed symptoms typical of this form of the disease; it should be stressed however that the loss of cutaneous sensation appeared to be limited to the distal parts of the lower extremities and involved all modalities of cutaneous sensation. Histological examination of sural nerve revealed a marked reduction in the number of myelinated fibres due to Wallerian-like axonal degeneration, of which various stages were represented. In addition, segmental demyelination, probably secondary to axonal changes, was seen. The unmyelinated fibres were also involved but to a lesser degree than the myelinated fibres. The observations indicate a progressive nature of the pathological process.

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.

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.

[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.

[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.

[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.

[Motor-sensory hereditary neuropathy. III. Histological changes]. / Ruchowo-czuciowa neuropatia dziedziczna. III. Zmiany histologiczne.

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. These observations confirmed the validity of the classification of Harding and Thomas, but give no basis for isolation of an "intermediate" group as suggested in the classification of Bradley et al. A progression of demyelination changes was observed with increasing intensity of the pathological process, and frequent coexistence of axonal changes in type I, and possibility of greater damage to the thin myelinated fibres in relation to thick fibres in type II.

[Sensorimotor hereditary neuropathy. IV. Clinical, electrophysiologic and histologic correlations. Summary of studies]. / Ruchowo-czuciowa neuropatia dziedziczna. IV. Korelacje kliniczno-elektrofizjologiczno-histologiczne. podsumowanie badan.

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. In type I the clinical and histological findings were more varied than in type II. No basis was found for isolation of an intermediate type of peroneal muscular atrophy.

[Hereditary motor and sensory neuropathy. I. Principles of classification and clinical picture]. / Ruchowo-czuciowa neuropatia dziedziczna. I. Podstawy klasyfikacji, obraz kliniczny.

The clinical picture was analysed in two types of hereditary motor-sensory neuropathy isolated on the ground of electrophysiological criteria. Type I comprised 34 patients with the conduction velocity in median nerve below 38 m/sec. Type II 19 patients with the conduction velocity above 38 m/sec. The age of onset was similar in both types and cases with onset below the age of 5 years prevailed. The assessment of the clinical picture using a acoring system failed to show any significant differences between type I and type II. Cases of type I shows, however, a considerable variability of the clinical picture and the course of disease process. Cases of type II were more homogeneous.

[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.

[Hereditary hypersensitivity of the peripheral nerves to pressure]. / Dziedziczna nadwraåliwosc nerwów obwodowych na ucisk.

The authors describe a case of hereditary neuropathy with increased sensitivity to pressure stressing its characteristic course facilitating the diagnosis. Electrophysiological investigations of the peripheral nerves demonstrated a generalized character of the disease process, morphological examination of the peripheral nerves demonstrated presence of characteristic although non-specific, limited myelin thickenings, different length of internodal segments, slight evidence of demyelination and remyelination, and presence of axonal component. The mechanism of development of these changes is still unexplained, possible myelinogenesis disturbances 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.

[Hereditary motor-sensory neuropathy. II. Electrophysiological studies]. / Ruchowo-czuciowa neuropatia dziedziczna. Czesc II. Zmiany elektrofizjologiczne.

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 16.2 m/sec, and group II of 19 cases had a mean conduction velocity in the median nerve of 50.7 m/sec. The evaluation of the degree of slowing down of conduction in both types showed similar values in individual cases and in families.

[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.