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E Narożańska,
B Jasińska-Myga,
E J Sitek,
P Robowski,
B Brockhuis,
P Lass,
M Dubaniewicz,
D Wieczorek,
M Baker,
R Rademakers,
Z K Wszolek, J Sławek
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ABSTRACT: Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is a neurodegenerative disorder with various clinical phenotypes. We present the first Central-Eastern European family (Gdansk Family) with FTDP-17 because of a P301L mutation in microtubule-associated protein tau (MAPT).
We have studied a family consisting of 82 family members, 39 of whom were genetically evaluated. The proband and her affected brother underwent detailed clinical and neuropsychological examinations.
P301L mutation in MAPT was identified in two affected and five asymptomatic family members. New features included hemispatial neglect and unilateral resting tremor not previously reported for P301L MAPT mutation. Low blood folic acid levels were also detected.
Our report suggests that FTDP-17 affects patients worldwide, but because of its heterogenous clinical presentation remains underrecognized.
European Journal of Neurology 03/2011; 18(3):535-7. · 3.69 Impact Factor
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A Gajos,
A Bogucki,
M Schinwelski,
W Sołtan,
M Rudzińska,
S Budrewicz,
M Koszewicz,
A Majos,
M Górska-Chrząstek,
M Bieńkiewicz,
J Kuśmierek, J Sławek
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ABSTRACT: Holmes tremor (HT) is a combination of rest, postural and action tremor. A parallel dysfunction of cerebello-thalamic and nigrostriatal pathways seems necessary to produce this kind of tremor. We present the clinical and neuroimaging study verifying that hypothesis.
A total of 10 patients: five male, five female, fulfilling consensus criteria were included. Demographic, clinical and neuroimaging data (MRI = 9; CT = 1, SPECT with the use of 123-I-FP CIT: DaTSCAN in six patients to assess the presynaptic dopaminergic nigrostriatal system involvement, indices of asymmetry for ligand uptake for each striatum were calculated) were analyzed.
Hemorrhage was the most frequent etiology and thalamus - the most commonly involved structure. Contrary to the previous reports, the visual assessment did not reveal remarkable interhemispheric differences of DaTSCAN uptake. Quantitative measurements showed only minimal differences.
It is open to debate whether nigrostriatal pathway damage is crucial for the phenomenology of HT. Alternative hypothesis is presented that HT represents the heterogeneous spectrum of tremors with similar phenomenology, but different pathophysiology.
Acta Neurologica Scandinavica 11/2010; 122(5):360-6. · 2.47 Impact Factor
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Parkinsonism & Related Disorders 09/2009; 16(1):73-4; author reply 75-6. · 3.80 Impact Factor
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ABSTRACT: Authors report the preliminary results of an open-label, prospective study to evaluate a functional benefit of botulinum toxin type A injections in diparetic cerebral palsy patients, using gross motor function measure (GMFM) score. In a group of 14 children (mean age 3.9 years, range 2-6) treated with Dysport 30 IU/kg, a statistically significant improvement (P < 0.05) was noticed in both simple measurements (Modified Ashworth Scale, Selective Motor Control, Passive Range of Movements, Physician Rating Scale and parental Clinical Global Impression) and complex functions (GMFM dimensions D and E) after 1 and 3 months. However, the simple measurement scores decreased (but not to the baseline) after 3 months; surprisingly, GMFM scores were still increasing (7.7% change after 3 months and 11.3% change after 6 months in nine patients). These results are in concordance with a few other data published to date. The study may support the concept of persistent functional gain in long-term treatment of spasticity caused by cerebral palsy with botulinum toxin type A.
European Journal of Neurology 06/2003; 10(3):313-7. · 3.69 Impact Factor
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European Journal of Neurology 02/2003; 10(1):107-8. · 3.69 Impact Factor
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J Sławek
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ABSTRACT: Spasticity is one of the constituent elements of upper motor neuron syndrome. For now, it is also the only symptom which is pharmacologically treatable. The pathophysiology of spasticity is very complex, and many aspects remain unclear. The great majority of commonly used oral drugs modulate the activity of receptors and/or neurotransmitters at different levels of the central nervous system. This is perhaps the main reason for the limited effectiveness of these drugs in many cases. Recently a new strategy - local injections of botulinum toxin type A (BTX-A) - has been introduced for the treatment of spasticity in cerebral palsy and post-stroke patients. BTX-A is a unique drug that acts at the final stage of the common pathway of pathological information mediated through the peripheral nerves to the muscles (at the motor end plates). Its mode of action is known as "chemical denervation", which serves to reduce increased muscle tone, improve the range of motions, positioning, function, and promote muscle growth in children. BTX-A was firstly used in post-stroke spasticity patients by Das and Park in 1989, but the best effects have been achieved in cerebral palsy. Accordingly, since 1997 this method has been approved in many European countries and Australia, and the principles governing this treatment strategy were published in the journal "Gait and Posture" in 2000. In the present paper, the author discusses the mechanism of spasticity, the logical approach to therapy, and many practical problems (injection modality, tolerability).
Ortopedia, traumatologia, rehabilitacja 01/2002; 3(4):541-6.
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ABSTRACT: We present 4 cases, which illustrate the usefulness of neuroimaging studies in atypical forms of Parkinsonism. Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD) are rare neurodegenerative progressive disorders of the central nervous system of unknown cause. The clinical accuracy in this diagnosis is not very high even in centres specialising in movement disorders. Functional imaging can be helpful in diagnosing PSP and CBD.
We present the results of cerebral blood flow (CBF) SPECT scanning in 2 patients with PSP and 2 patients with CBD. This was performed using a triple-head gammacamera and 99m Tc-HMPAO.
In PSP patients a diffuse frontal perfusion deficit was seen, eventually with striatal and occipital hypoperfusion. CT/MRI was either normal or showed a diffuse cortical-subcortical atrophy. In CBD patients left fronto-parieto-temporal cortex and a striatal hypoperfusion were shown. CT scanning was normal in one case and showed an asymmetrical temporo-parietal atrophy in second one.
The pattern of diffuse frontal perfusions deficit in PSP and asymmetrical, contralateral to symptoms of CBD, cortico-subcortical hypoperfusion may be helpful in establishing the correct diagnosis.
Nuclear medicine review. Central & Eastern Europe: journal of Bulgarian, Czech, Macedonian, Polish, Romanian, Russian, Slovak, Yugoslav societies of nuclear medicine and Ukrainian Society of Radiology 02/2001; 4(2):73-6.
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ABSTRACT: Dementia is one of the main non-motor symptoms of Parkinson's disease (PD) and it is diagnosed in about 30% of cases. Its aetiology remains unclear and contributing factors are controversial. Dementia may be more common in old patients with severe motor symptoms and mild cognitive impairment. Clinico-pathological studies show the association between dementia in PD and the age-related group of dementias, such as AD and VaD. A valuable aid in the assessment of dementia in PD is cerebral blood flow (CBF) brain SPECT scanning. It shows three different patterns of rCBF reduction, including frontal lobe hypoperfusion, Alzheimer-like type of hypoperfusion and multiple, vascular defects. The heterogeneity of rCBF reduction may reflect the multifactorial pathophysiology of dementia in PD. It may result from concomitant AD pathology, cerebrovascular disease, destruction of nigro-striato-frontal projection or may be a distinct disease of different aetiology.
Nuclear medicine review. Central & Eastern Europe: journal of Bulgarian, Czech, Macedonian, Polish, Romanian, Russian, Slovak, Yugoslav societies of nuclear medicine and Ukrainian Society of Radiology 02/2001; 4(2):123-7.
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J Sławek
Nuclear medicine review. Central & Eastern Europe: journal of Bulgarian, Czech, Macedonian, Polish, Romanian, Russian, Slovak, Yugoslav societies of nuclear medicine and Ukrainian Society of Radiology 02/1999; 2(2):85-6.
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ABSTRACT: Intracranial hemorrhages are the most severe complication of nowadays widely used anticoagulant and thrombolytic therapy. During 34 months we observed 102 cases of intracranial hemorrhages at the Department of Neurology at our hospital. Among them 8 cases occurred during anticoagulant and/or thrombolytic treatment. The most common risk factors were: arterial hypertension, simultaneous use of other drugs with possible interactions and not following the rules of safe therapy. Because of the dangerous complications during this kind of therapy the risk factors have to be considered.
Przegla̧d lekarski 02/1999; 56(9):562-5.
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ABSTRACT: The authors present the method of hemifacial spasm treatment with botulinum toxin discussing the results of the treatment, injection method, side effects and complications of this treatment on the basis of literature review and their own experience. Clinical features, aetiology and pathophysiology of this condition are described. Other treatment methods are briefly mentioned.
Neurologia i neurochirurgia polska 02/1998; 32 Suppl 1:61-9. · 0.43 Impact Factor
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J Sławek
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ABSTRACT: The author reviews the current opinions on the treatment of spasticity with special consideration given to the new method of treatment with local injections of botulinum toxin A into the spastic muscles. Botulinum toxin is the treatment of choice in focal dystonias and hemifacial spasm. The mechanism of action of the toxin is unique and is a result of dose-dependent and partial chemical denervation of the muscles, with preservation of tonus and thus its function. Recent reports have confirmed the safety and effectiveness of the method in spasticity, especially when it is focal, not diffuse or severe and without concomitant severe paresis. The author describes also the basic data of the pathophysiology of spasticity and reviews other therapeutic options and practical problems concerning the injections of botulinum toxin.
Neurologia i neurochirurgia polska 02/1998; 32 Suppl 1:71-84. · 0.43 Impact Factor
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J Sławek
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ABSTRACT: The author presents current views on neuroprotective strategies in therapy of idiopathic Parkinson's disease. They are the result of different aetiopathogenetic concepts of Parkinson's disease. The concepts of loss of nigral cells as a result of aging, apoptosis or genetic defect (alpha-synucleine) are not sufficiently proven and their role is only hypothetic. Therapeutic use of nerve growth factors seems to be a promising novel strategy but there are technical problems how to deliver them to the brain. One of the most and widely acceptable concept is the theory of the role of oxidative stress in pathogenesis of Parkinson's disease. It was a scientific basis for clinical trials with selegiline (DATATOP, SINDEPAR, PDRG) which results were unfortunately disappointing, mostly because of symptomatic effect of selegiline. Another interesting concept seems to be the excitotoxicity of amino acids (like glutamate) and amantadine is the well known drug with recently discovered antagonism to NMDA receptors. In only one retrospective clinical trial in humans its neuroprotective effect was proven, but we need now well prepared prospective trials with this drug to confirm this result. So far, despite the hopes concerning selegiline no one effective neuroprotective agent is available in treatment of Parkinson's disease.
Neurologia i neurochirurgia polska 34(4):733-42. · 0.43 Impact Factor
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ABSTRACT: The authors present a very rare case of Holmes tremor (previously known as rubral or midbrain tremor). In all described till now cases the tremor was due to a known and revealed in laboratory or neuroimaging cause. We present an unusual case of a 42-year old woman with unilateral tremor of right extremities (mostly proximal part of upper extremity) which started abruptly 3 years ago. She had no suffer any serious disease before the onset of symptoms and her family history was also negative. The tremor was present at rest but accelerated during specific postures and active movements. The laboratory tests including: copper and ceruloplasmin concentrations, blood analysis for acanthocytes, evoked potentials, EEG, CT, MRI, MRA and SPECT did not reveal any significant changes. Treatment attempts with neuroleptics, clonazepam, L-dopa, valproic acid, biperiden were almost completely ineffective except local injections of botulinum toxin (Botox, Allergan, 150 U) into the muscles of right arm girdle which moderately alleviated tremor. We did not find any underlying pathology as a cause of tremor, clinically the same as symptomatic cases described in literature. We suggest the possibility of idiopathic origin of tremor in our case, although a very small size of lesion (f.i. ischaemic) could be undetectable in the described tests.
Neurologia i neurochirurgia polska 34(4):775-82. · 0.43 Impact Factor
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ABSTRACT: Idiopathic Parkinson Disease accounts for approximately 75% of all cases of parkinsonism. The described case of Corticobasal Degeneration (CBD), until now not presented in Polish medical literature is a relatively rare example of so-called "parkinson plus" syndrome. The authors present the case of a 56 years old woman with asymmetric onset of rigidity and atypical tremor of upper extremity followed by gait disturbances (gait apraxia), dysarthria, bilateral pyramidal signs and myoclonus. Complete lack of clinical improvement after treatment with L-dopa and progressive character were observed from the onset of the disease. The presented case seems to be helpful in differential diagnosis of parkinson plus syndromes and specially CBD, which seems to be difficult in the first stages of the disease. Although the case was not neuropathologically verified (patient is still alive) the diagnosis seems to be almost true.
Neurologia i neurochirurgia polska 32(6):1523-31. · 0.43 Impact Factor
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ABSTRACT: The authors present current opinions on the etiology and strategies of treatment of hemifacial spasm. In the vast majority of patients it is caused by compression of facial nerve by redundant loops of vertebral and basilar arteries and their branches. It was confirmed by neuroradiology imaging techniques and during surgical interventions. In recent years a new, non-invasive method of treatment has gained a wide approval--the local injections of botulinum toxin A into contracting muscles is a highly effective (90%) and safe method of treatment. Our own material (10 patients, 22 sessions) confirms it as well.
Neurologia i neurochirurgia polska 32(2):277-84. · 0.43 Impact Factor
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ABSTRACT: 22 patients with focal dystonias were treated with local injections of botulinum toxin A (Botox) into muscles with involuntary, sustained movements. The method is highly effective, practically without serious side effects and now is considered the treatment of choice in this group of patients what has been also confirmed in our own material.
Neurologia i neurochirurgia polska 31(2):207-15. · 0.43 Impact Factor
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ABSTRACT: Camptocormia is characterized by pronounced forward flexion of the thoracolumbar spine, which increases while walking and disappears in recumbent position. The clinical spectrum of the described disorders with concomitant camptocormia is heterogenous. It was described for the first time in idiopathic Parkinson's disease in 1999. The pathophysiology of this phenomenon remains unclear but seems to be not related to antiparkinsonian treatment. The authors present the case of a 54 years old woman, with idiopathic Parkinson disease diagnosed 5 years ago. The rapid progression of the disease was associated with good response to Levodopa therapy, although the dose had to be increased up to 1400 mg/d (with peripheral decarboxylase and COMT inhibitor). After 5 years she developed painful spasms of paraspinal muscles which resulted in trunk flexion. The clinical picture resembled the described cases of camptocormia. There was no correlation between the appearance of camptocormia and the regime of levodopa administration (time or dosage). Therefore, one can conclude, that presumably camptocormia is not a form of dystonia of the trunk but, the result of till now unclear other factors (dysfunction in other non-dopaminergic nigrostriatal projections?).
Neurologia i neurochirurgia polska 35(6):1133-40. · 0.43 Impact Factor
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ABSTRACT: The aim of our study was to assess the frequency of dementia in a highly selected (according to diagnostic criteria of Parkinson's disease and other causes of dementia) group of patients.
46 patients (F 18, M 28), mean age--63.9 (39-80) years, with good response to L-Dopa. Besides the neurological examination, all patients underwent CT and psychological tests (Wechsler-Bellevue, Mini Mental and Hamilton test--to exclude severe depression as cognitive problem cause). In the group with dementia thyroxine and cholesterol tests and EEG were performed.
Within the whole group the features of dementia (the index of deterioration in Wechsler test > 25% and/or 23 or less points in Mini-Mental) were recognized in 11 (23.9%) patients. In comparison to the rest of the patients, in the group with dementia the mean age was 8.1 years higher, mean age at onset of the disease was 6.4 years higher, mean time of the disease 1.5 years longer and the severity of the disease measured in Hoehn-Yahr rating scale was 0.76 points higher (2.20 vs 2.96). In the whole group severe depression (> 18 points in Hamilton test) was revealed in 6%, whereas moderate (8-17 points) occurred in 71%.
Older age, later onset of symptoms and more advanced disease are the risk factors of dementia. Other causes--like dementia of Alzheimer's type may be suspected or two distinctive forms of Parkinson's Disease with and without dementia exist.
Neurologia i neurochirurgia polska 35(4):569-81. · 0.43 Impact Factor
