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Aim of the Study: This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed., Clinical Rationale for the Study: Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice., Materials and Methods: A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded., Results: The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mild phenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere., Conclusions and Clinical Implications: Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms.

Clinical Rationale for the Study: Autonomic nervous system (ANS) involvement in different parkinsonian syndromes has been frequently discussed. It is well established in multiple system atrophy (MSA), whereas it is less evident in progressive supranuclear palsy (PSP)., Aims of the Study: The aims were to assess the presence and pattern of ANS involvement in MSA and PSP using noninvasive tests i.e. the sympathetic skin response (SSR) test and the R-R interval variation (RRIV) test; to analyse the relationship between clinical and electrophysiological abnormalities in both disorders; and to assess whether an autonomic profile might help to differentiate them., Materials and Methods: Clinical and electrophysiological assessments of dysautonomia were performed in 59 patients with MSA (24 cases of MSA-C and 35 cases of MSA-P), these 59 cases including 31 females, mean disease duration 4.2 ± 2.7 years, mean age 60.3 ± 8.4 years, and in 37 patients with PSP (12 females, mean disease duration 4.6 ± 3.6 years, mean age 67.5 ± 6.1 years) and the results were compared to the results obtained from 23 healthy controls matched for age and sex., Results: Clinical dysautonomia assessed by an Autonomic Symptoms Questionnaire was observed in 97% of the MSA patients and in 84% of the PSP patients. SSR was abnormal in 64% and RRIV was abnormal in 73% of MSA cases. In PSP cases, these figures were 78% and 81% respectively. Dysautonomia was clinically more pronounced in MSA compared to PSP (p < 0.05), whereas electrophysiological testing revealed frequently subclinical ANS damage in PSP patients., Conclusions and Clinical Implications: Our results point to the complementary role of electrophysiological tests in the diagnostic work-up of dysautonomia in parkinsonian syndromes.

Unlabelled: Abnormal blink reflex (BR) is a result of reticular brainstem pathways dysfunction and seems to be one of the features of brain degenerative disorders. The aim of the study was to estimate the diagnostic value of blink reflex in neurodegenerative diseases such as: multisystem atrophy (MSA), progressive supranuclear palsy (PSP) and Parkinson disease (PD). Material consisted of 99 patients with clinically probable MSA (51), PSP (28) and PD (20). MSA patients were divided into two subgroups, with dominant cerebellar (MSA-C) and parkinsonian signs (MSA-P). The mean age of patients was 64.9 years (47-79 years); males - 55.3%. Blink reflex was obtained in a typical way., Results: The significant differences in mean values of blink reflex latencies between PD and other subgroups (MSA-P, MSA-C, PSP) were found, but all of them were in normal range. In individual patients with PD and PSP (50% and 18%, respectively) delayed R2 latencies were recorded., Conclusions: The most frequently abnormal blink reflexes, comparing the MSA, PSP and PD groups, were present in PD patients. We postulate that this may be explained by pathological influence of nigrostriatal pathway on the circuit linking the basal ganglia, cerebellum and brainstem., (Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)

Atypical parkinsonian disorders (APD) are a heterogenous group of neurodegenerative diseases such as: progressive supranuclear palsy (PSP), multiple system atrophy (MSA), cortico-basal degeneration (CBD) and dementia with Lewy bodies (DLB). In all of them core symptoms of parkinsonian syndrome are accompanied by many additional clinical features not typical for idiopathic Parkinson's disease (PD) like rapid progression, gaze palsy, apraxia, ataxia, early cognitive decline, dysautonomia and usually poor response to levodopa therapy. In the absence of reliably validated biomarkers the diagnosis is still challenging and mainly based on clinical criteria. However, robust data emerging from routine magnetic resonance imaging (MRI) as well as from many advanced MRI techniques such as: diffusion weighted imaging (DWI) and diffusion tensor imaging (DTI), magnetic resonance spectroscopy (MRS), voxel-based morphometry (VBM), susceptibility-weighted imaging (SWI) may help in differential diagnosis. The main aim of this review is to summarize briefly the most important and acknowledged radiological findings of conventional MRI due to its availability in standard clinical settings. Nevertheless, we present shortly other methods of structural (like TCS - transcranial sonography) and functional imaging (like SPECT - single photon emission computed tomography or PET - positron emission tomography) as well as some selected advanced MRI techniques and their potential future applications in supportive role in distinguishing APD., (Copyright © 2015 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)

Mitochondrial diseases may cause a wide range of central and peripheral nervous system disorders, as well as muscle disorders. The diagnostic workup routinely includes electrophysiological, morphological, neuroimaging and genetic studies. In some cases, the diagnosis may be ascertained only when mitochondrial DNA (mtDNA) examination in the muscle is performed. We report on a case of a 24-year-old woman, with a 7-year history of slowly progressive cerebellar syndrome and bilateral ptosis. Mitochondrial encephalomyopathy was suspected, based on the clinical picture and results of examinations, but the typical red ragged fibers were not found in the muscle biopsy. The results of molecular analysis of mtDNA showed a mtDNA deletion in the muscle and, on a level detectable only with polymerase chain reaction method, in blood leukocytes. This case emphasizes the important role of mtDNA studies in muscle in nonspecific multisystem mitochondrial disorders, even without clinical muscle involvement., (Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)

Background and Purpose: Parkinson disease (PD) is a complex disease, comprising genetic and environmental factors. Despite the vast majority of sporadic cases, three genes, i.e. PARK2, PINK1 and PARK7 (DJ-1), have been identified as responsible for the autosomal recessive form of early-onset Parkinson disease (EO-PD). Identified changes of these genes are homozygous or compound heterozygous mutations. The frequency of PARK2, PINK1 and PARK7 mutations is still under debate, as is the significance and pathogenicity of the single heterozygous mutations/variants, which are also detected among PD patients. The aim of the study was to analyze the incidence of autosomal recessive genes PARK2, PINK1, PARK7 mutations in Polish EO-PD patients., Material and Methods: The analysis of the PARK2, PINK1 and PARK7 genes was performed in a group of 150 Polish EO-PD patients (age of onset < 45 years). Mutation analysis was based on sequencing and gene dosage abnormality identification., Results: Mutations were identified only in the PARK2 and PINK1 genes with the frequency of 4.7% and 2.7% of subjects, respectively. In PARK2, point mutations and exons' rearrangements, and in PINK1 only missense mutations were detected. In both genes mutations were found as compound heterozygous/homozygous and single heterozygous. EO-PD patients' genotype-phenotype correlation revealed similarities of clinical features in mutation carriers and non-carriers., Conclusions: The frequency of the PARK2, PINK1, PARK7 mutations among Polish EO-PD patients seems to be low. The role of single heterozygous mutations remains a matter of debate and needs further investigations.

Niemann-Pick disease type C is a rare hereditary disorder caused by mutation-disrupted metabolism of cholesterol and low-density lipoprotein (LDL). In most patients, symptoms begin in childhood with severe clinical progression. We present a patient with heterozygote mutations 3001A>G and 3019C>G with late onset of the disease and positive response to treatment with miglustat. Behaviour and educational problems in childhood were probably related to the disease diagnosed later.

Background and Purpose: Mitochondrial cytopathies are heterogeneous disorders affecting multiple systems but most commonly involving the skeletal muscle and central nervous system. The variety of symptoms and signs requires biochemical, morphological and genetic evaluation. The results of genetic studies indicate that there is no direct correlation between genotype and phenotype in mitochondrial cytopathies. This study is the first such analysis of a group of Polish patients with mitochondrial cytopathies. Its aim is to define the clinical features of mitochondrial cytopathies in relation to their genetic defects., Material and Methods: In a retrospective study, 46 patients with final diagnosis of mitochondrial cytopathy were evaluated clinically and electrophysiologically. Each patient underwent electromyography, electroneurography, and some patients were also assessed using electroencephalography. Clinical diagnoses were confirmed through the histopathological evaluation of muscle biopsies. In 36 cases mitochondrial DNA (mtDNA) testing was performed., Results: Eight different clinical syndromes were diagnosed among the evaluated patients. In the skeletal muscle biopsy, ragged-red fibres, which are a significant symptom for these disorders, were present in the majority of cases (93%). The presence of specific gene mutations was confirmed in 9 out of the 36 cases in which mtDNA was examined., Conclusions: The results of our study confirm the remarkable clinical heterogeneity of mitochondrial cytopathies. Final diagnosis in many cases could only be confirmed by detection of the genetic defects. Molecular diagnosis may in the future have a significant impact on new therapeutic approaches.

Background and Purpose: Oculopharyngeal muscular dystrophy (OPMD) is mostly an autosomal dominant myopathic disorder, characterized by progressive bilateral ptosis, dysphagia and proximal muscle weakness, appearing usually in the fifth to sixth decade of life. The underlying cause of OPMD is an expanded GCG repeat in the first exon of the gene encoding poly (A)-binding protein nuclear 1 (PABPN1) localized on chromosome 14.q11.2-q13. The number of GCG expansion ranges from 8 to 13 repeats. PABPN1 is a nuclear multifunctional protein which is involved in transcription regulation and post-transcriptional processes., Material and Methods: We report on clinical characteristics in 9 Polish patients with genetically confirmed OPMD., Results: The expanded repeat ranged from (GCG)8 to (GCG)11. Ptosis and dysphagia were present in all examined cases. In 4 patients weakness of extraocular muscle was found and two of them experienced transient diplopia. Mild limb-girdle weakness was observed in 6 patients. Muscle biopsy performed in all cases showed myopathic changes with rare rimmed vacuoles. Strikingly, despite thorough examination on electron microscopy, intranuclear inclusions typical for OPMD were found only in one patient., Conclusions: Genetic testing is necessary to confirm the diagnosis of OPMD, especially in cases with ptosis and external ophthalmoparesis, which may be initially diagnosed as mitochondrial myopathy.

The impact of thyroid hormones upon the proper function of central nervous system has been known for many years. The neurological symptoms and psychiatric disturbances may occur both in case of hypo- as well as hyperthyreosis. The encephalopathy Hashimoto (EH) described in this paper is a rare illness which occurs in case of patients suffering from the autoimmunological thyroid disease and increased level of antibodies in serum without any connections to the thyroid function. It is characterised by a variety of neurological symptoms and psychotic disturbances, acute state, high re-occurrence and good reaction to glicocorticosteroid treatment. Although we face encephalopathy Hashimoto extremely rarely in the clinical practice one should remember about it during the diagnostic process because when it is a long lasting untreated illness it may lead to the irreversible changes in the central nervous system.

We present the case of a 77-year-old woman with corticobasal degeneration (CBD) which still is an underdiagnosed neurodegenerative disease. She revealed stiffness and dystonia of the right hand at the disease onset. Brain magnetic resonance imaging (MRI) and single photon emission computed tomography (SPECT-HMPAO) showed changes in the left cerebral hemisphere, opposite to neurological signs. The authors present a detailed differential diagnosis that enabled to several other degenerative disorders of the brain to be excluded. In the present case, symptomatic treatment was ineffective. We emphasize that the diagnosis can be made during life based on clinical signs and neuroradiologic studies such as MRI, SPECT-HMPAO and proton magnetic resonance spectroscopy.

We present a 43-year-old man with recurrent episodes of Hashimoto's encephalopathy who was diagnosed with autoimmune thyroiditis in childhood. Encephalopathy started with subacute dementia followed by extrapyramidal and psychiatric symptoms of insidious onset. He had also status epilepticus which occurred within the first year of the disease. The patient was in euthyreosis, but increased levels of antithyroid antibodies were found. MRI of the brain was normal. Electroencephalography was initially normal and later showed diffuse slowing with generalized theta/delta activity. The cerebrospinal fluid examination revealed a high level of protein which decreased when remission of the disease was achieved. After other etiology was excluded Hashimoto's encephalopathy was diagnosed. Almost complete clinical recovery after steroid administration was observed. Attempts of prednisone withdrawal led to recurrence of neurological and psychiatric symptoms. The diagnosis of Hashimoto's encephalopathy should be considered in each case with subacute encephalopathy associated with high levels of antithyroid antibodies (despite normal thyroid function) and in the absence of other brain diseases.

A sporadic case of a 31 year-old woman with genetically confirmed diagnosis of LHON was presented. Both her optic nerves were affected, with a 5-year interval between the onset in one eye and the loss of vision in the second one. Besides optic atrophy clinical and laboratory signs of multiple sclerosis were found. A review of the literature suggests that the G3460A mutation present in this case rarely coexists with a MS-like clinical phenotype.

A role for oxidative stress in the etiology or progression of amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases has been recently proposed. We conducted the 18-month, randomized treatment trial with oral vitamin E (600 IU daily) and selegiline (10 mg daily) in 67 patients with sporadic ALS. Thirty five patients were randomly assigned to receive antioxidative therapy (vitamin E plus selegiline) and the remaining 32 patients were the ALS controls who received symptomatic treatment. The primary end point was survival and functional status. At the end of 18-month study, 13 patients in the treatment group and 14 in the control group died or were tracheostomized. A decline in functional disability was also similar in both groups. Long-term antioxidative treatment did not benefit patients with ALS.

One of the hypotheses in amyotrophic lateral sclerosis (ALS) indicates on excitatory amino acids as the cause of neuronal death. Changes in their concentration in the tissues and body fluids may be the consequence of a defect in their transport, as well as abnormal activities of glutamate metabolizing enzymes. Abnormal synthesis/degradation of these enzymes and/or influence of activators/inhibitors should be taken into account. The activity of enzymes of glutamate metabolism of rat spinal cord in vitro in the presence of serum and cerebrospinal fluid (CSF) of 20 patients with ALS and 20 healthy controls was tested. In the presence of serum of the ALS patients glutaminase was significantly stimulated, instead of being inhibited; the inhibition of GABA aminotransferase, glutamate decaboxylase and aspartate aminotransferase was less evident than in the controls, glutamate dehydrogenase lost its activity more than in control conditions, the inhibition of glutamine synthetase was comparable to that when normal serum was applied. The activity of the enzymes in the presence of CSF of ALS patients was generally similar to that of normal CSF, except of glutaminase which was stimulated and GABA aminotransferase, which was inhibited stronger than in the presence of normal CSF. This study indicates, that changes in glutamate concentration in tissues and body fluids in ALS may be caused, at least partly, by abnormalities in the activity of glutamate metabolism enzymes, which are in turn induced by neurotoxic agents present in body fluids of ALS patients.

Mitochondrial dysfunction and abnormal electron chain transport (ECT) may be involved in the pathogenesis of ALS. The aim of this study was to investigate the effect of cerebrospinal fluid (CSF) from ALS patients on the activity of ECT enzymes in mitochondrial cerebral crude preparations in the rats. We found that CSF inhibited the activity of complex I-III in 20%, complex II-III in 12% and complex IV in 33% of the ALS patients. CSF from the controls did not affect the activity of complex I-III and II-III. The effect of the CSF ultrafiltrates with cut off below 5000 daltons on the activity of ECT enzymes was also investigated. The CSF ultrafiltrates inhibited the activity of complex I-III, complex II-III and complex IV in 38%, 44% and 53% of the ALS patients, and in 80%, 53% and 43% of the controls, respectively. The results of this study and our previously reported experiments on the sera of ALS patients may indicate that neurotoxic effects of body fluids from ALS patients could be mediated by inhibition of the respiratory chain enzymes. This confirms an important role of mitochondrial dysfunction in the pathogenesis of ALS.

We described a 47-year-old man with ischemic stroke who developed a brainstem syndrome with persistent dysphagia. He was fed by the nasogastric tube placed intermittently by himself for almost 7 months after the stroke. Elective feeding via percutaneous endoscopic gastrostomy (PEG) was not accepted by the patient. All treatment attempts with benzodiazepines, antidepressants and spasmolytic agents were unsuccessful. Videofluoroscopic investigation revealed excessive and long-lasting spasm of the upper esophageal sphincter which was associated with the massive aspiration of the contrast. The patient dramatically improved after treatment with nitroglycerin and long-acting nitrates with almost complete recovery of normal swallowing. A strikingly good effect of nitrates in the treatment of oropharyngeal dysphagia is emphasized by the authors.

Patient, 19 year old man with rapidly developing motor, sensory and autonomic polyneuropathy fulfilling diagnostic criteria for G-B syndrome is presented. Sural nerve biopsy revealed severe axonopathy, however, it seems due to primary demyelinating process.

We described a young male with severe Guillain-Barré syndrome in whom pulmonary sarcoidosis was also detected. Based upon the results of diagnostic procedures (nerve biopsy, CSF examination, electrophysiological study) we postulate that this was a Guillain-Barré syndrome coexisting with sarcoidosis, and not the case of sarcoid neuropathy.

The reported case was observed in a 62-year-old female in whom a syndrome of vascular disturbances developed suddenly in the area vascularized by the artery of Adamkiewicz. In the analysis of the pathological mechanism of these changes compression injury, myelitis, pelvic phlebothrombosis were excluded. Thrombosis of the artery of Adamkiewicz due to atheromatosis of the spinal arteries, was diagnosed. The atheromatous process involves the anterior spinal artery in 4% of subjects aged from 60 to 70 years.

The reported case illustrated the nosological difficulties in diseases grouped under the term hereditary ataxia.

A case is reported of a tumour in the parietal area with atrophy of upper extremity muscles but without changes in laboratory investigations.