Zespół hemiparkinsonizm-hemiatrofia – opis dwóch przypadków i przegląd piśmiennictwa

Hemiparkinsonism-hemiatrophy (HPHA) is a rare neurological syndrome. The main clinical features of HPHA consist of atrophy of one side of the body (face, trunk, limbs), ipsilateral hemiparkinsonism (bradykinesia, rigidity, tremor) and in many cases dystonia. There are no data on prevalence of HPHA as the condition is rare. The mean age of parkinsonism onset is earlier than in idiopathic Parkinson disease (43.7 years, range: 15–63). Changes in magnetic resonance imaging (MRI) (cortical, basal ganglia atrophy contralaterally to the side of clinical presentation) are described in 30% of patients. The pathogenesis of HPHA is unknown, but in many cases a history of prenatal injuries was reported. We present two male patients with HPHA – 45 and 55 years old, with left-sided parkinsonism, dystonia and hemiatrophy (to our knowledge, the first Polish cases). Both patients had no atrophic changes in MRI and levodopa treatment was ineffective. In the discussion the authors review current literature on HPHA.Zespół hemiparkinsonizm-hemiatrofia (hemiparkinsonism-hemiatrophy – HPHA) jest rzadkim schorzeniem neurologicznym. Głównymi objawami są zanik połowy ciała (w zakresie twarzy, tułowia, kończyn) oraz tożstronny zespół parkinsonowski (bradykinezja, sztywność, drżenie), któremu u wielu chorych towarzyszy także dystonia. Z powodu rzadkiego występowania tego schorzenia nie ma danych epidemiologicznych. średnia wieku pojawienia się objawów parkinsonowskich jest niższa niż dla idiopatycznej choroby Parkinsona i wynosi 43,7 roku (zakres: od 15 do 63 lat). Zmiany w badaniu obrazowym mózgu (połowiczy przeciwstronny zanik korowy i podkorowy) opisywane są w 30% przypadków. Patogeneza choroby jest nieznana, ale w wielu przypadkach opisywano zaburzenia w okresie prenatalnym. W pracy prezentujemy dwóch pacjentów z HPHA – mężczyzn w wieku 45 i 55 lat z objawami lewostronnego parkin-sonizmu, dystonii i połowiczego zaniku ciała. U żadnego z pacjentów nie stwierdzono zmian w badaniu za pomocą rezonansu magnetycznego. Odpowiedź na lewodopę była ograniczona. Według naszej wiedzy jest to pierwsza polska publikacja prezentująca HPHA. W dyskusji dokonano także przeglądu piśmiennictwa na ten temat

Characteristics and clinical correlates of white matter changes in brain magnetic resonance of migraine females

Objective: White matter hyperintensities (WMHs) were often found in migraine patients. The aim of study was to characterize WMHs, assess their prevalence, determine relationship to clinical symptoms and homocysteine levels in migraine females. Methods: 69 women 38 with migraine without aura (MO), 31 with migraine with aura (MA) who underwent brain MRI with 1.5T scanner were enrolled. TheWMHsnumber, location and size in FLAIR sequence were evaluated. Migraine severity was measured by pain intensity, number of attacks per month and MIDAS scale. Results: WMHs were found in 39.1% females. There was no WMHs and migraine typecorrelation. The total WMHs number was higher in MO ( p = 0.027). Patients with WMHswere older ( p = 0.025), have higher BMI ( p = 0.042), suffered longer ( p = 0.001), more often had positive pregnancy history ( p = 0.010) and less frequent prodromal symptoms. The age of onset, migraine's severity and homocysteine did not correlate with WMHs. No effect of antimigraine medication and oral contraceptive pills (OCP) was found. Both in MO and MA groupsWMHswere located only supratentorially. In MO femalesWMHswere mainly located in one cerebral hemisphere ( p = 0.024) whereas in MA were found bilaterally. WMHs were most commonly located in the frontal lobes. In MOlesions were small ≤3 mmand present in almost all MO patients ( p = 0.027).Conclusion: WMHs are present in more than one third of migraine females, regardless of aura. WHMs are located supratentorially, subcortically and in the frontal lobes. Older age, longer disease's duration, obesity and positive history of pregnancy are main risk factors for WMHs. Symptomatology and migraine severity, hyperhomocysteinemia, OCP and antimigraine medications do not increase WMHs

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) – A case report and review of literature

CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare neurological syndrome of unknown etiology. The main clinical features include bilateral vestibulopathy, cerebellar ataxia and sensory neuropathy. An abnormal visually enhanced vestibulo-ocular reflex is the hallmark of the disease. We present a case of 58-year-old male patient who has demonstrated gait disturbance, imbalance and paresthesia of feet for 2 years. On examination ataxia of gait, diminished knee and ankle reflexes, absence of plantar reflexes, fasciculations of thigh muscles, gaze-evoked downbeat nystagmus and abnormal visually enhanced vestibulo-ocular reflex were found. Brain magnetic resonance imaging revealed cerebellar atrophy. Vestibular function testing showed severely reduced horizontal nystagmus in response to bithermal caloric stimulation. Nerve conduction study revealed loss of upper and lower limb sensory nerve action potentials. The course of illness was progressive with ataxic gait and unsteadiness as the most disabling symptoms. We report 4-year follow-up of the patient since the beginning of the disease

Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

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 mildphenotypic 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

Pine defense against eggs of an herbivorous sawfly is elicited by an annexin-like protein present in egg-associated secretion

Known elicitors of plant defenses against eggs of herbivorous insects are low-molecular-weight organic compounds associated with the eggs. However, previous studies provided evidence that also proteinaceous compounds present in secretion associated with eggs of the herbivorous sawfly Diprion pini can elicit defensive responses in Pinus sylvestris. Pine responses induced by the proteinaceous secretion are known to result in enhanced emission of (E)-β-farnesene, which attracts egg parasitoids killing the eggs. Here, we aimed to identify the defense-eliciting protein and elucidate its function. After isolating the defense-eliciting protein from D. pini egg-associated secretion by ultrafiltration and gel electrophoresis, we identified it by MALDI-TOF mass spectrometry as an annexin-like protein, which we named ‘diprionin’. Further GC-MS analyses showed that pine needles treated with heterologously expressed diprionin released enhanced quantities of (E)-β-farnesene. Our bioassays confirmed attractiveness of diprionin-treated pine to egg parasitoids. Expression of several pine candidate genes involved in terpene biosynthesis and regulation of ROS homeostasis was similarly affected by diprionin and natural sawfly egg deposition. However, the two treatments had different effects on expression of pathogenesis-related genes (PR1, PR5). Diprionin is the first egg-associated proteinaceous elicitor of indirect plant defense against insect eggs described so far

Electrophysiological and clinical assessment of dysautonomia in multiple system atrophy (MSA) and progressive supranuclear palsy (PSP): a comparative study

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

Foot defects in infants and children and three-plane manual therapy

The subject of the article are foot defects in infants and children as well as early diagnosis and application of three-plane manual therapy of foot defects in children. Foot defects in infants and children are a common problem and the examination of the correctness of foot is very importan. Three-plane manual therapy of foot defects in children is one of the proposals that can be used in small patients because it brings therapeutic effects. Rapid implementation of therapy, gives us the ability to inhibit abnormal movement patterns and seek to the correct distribution of muscle ton

Defense of Scots pine against sawfly eggs (Diprion pini) is primed by exposure to sawfly sex pheromones

Plants respond to insect infestation with defenses targeting insect eggs on their leaves and the feeding insects. Upon perceiving cues indicating imminent herbivory, such as damage-induced leaf odors emitted by neighboring plants, they are able to prime their defenses against feeding insects. Yet it remains unknown whether plants can amplify their defenses against insect eggs by responding to cues indicating imminent egg deposition. Here, we tested the hypothesis that a plant strengthens its defenses against insect eggs by responding to insect sex pheromones. Our study shows that preexposure of Pinus sylvestris to pine sawfly sex pheromones reduces the survival rate of subsequently laid sawfly eggs. Exposure to pheromones does not significantly affect the pine needle water content, but results in increased needle hydrogen peroxide concentrations and increased expression of defense-related pine genes such as SOD (superoxide dismutase), LOX (lipoxygenase), PAL (phenylalanine ammonia lyase), and PR-1 (pathogenesis related protein 1) after egg deposition. These results support our hypothesis that plant responses to sex pheromones emitted by an herbivorous insect can boost plant defensive responses to insect egg deposition, thus highlighting the ability of a plant to mobilize its defenses very early against an initial phase of insect attack, the egg deposition

Defense of Scots pine against sawfly eggs (Diprion pini) is primed by exposure to sawfly sex pheromones

Plants respond to insect infestation with defenses targeting insect eggs on their leaves and the feeding insects. Upon perceiving cues indicating imminent herbivory, such as damage-induced leaf odors emitted by neighboring plants, they are able to prime their defenses against feeding insects. Yet it remains unknown whether plants can amplify their defenses against insect eggs by responding to cues indicating imminent egg deposition. Here, we tested the hypothesis that a plant strengthens its defenses against insect eggs by responding to insect sex pheromones. Our study shows that preexposure of Pinus sylvestris to pine sawfly sex pheromones reduces the survival rate of subsequently laid sawfly eggs. Exposure to pheromones does not significantly affect the pine needle water content, but results in increased needle hydrogen peroxide concentrations and increased expression of defense-related pine genes such as SOD (superoxide dismutase), LOX (lipoxygenase), PAL (phenylalanine ammonia lyase), and PR-1 (pathogenesis related protein 1) after egg deposition. These results support our hypothesis that plant responses to sex pheromones emitted by an herbivorous insect can boost plant defensive responses to insect egg deposition, thus highlighting the ability of a plant to mobilize its defenses very early against an initial phase of insect attack, the egg deposition