Clinical Neuroscience

[DYT1 POSITIVE GENERALISED DYSTONIA: A CASE STUDY OF TWO SIBLINGS]

BEREZNAI Benjámin1, BARACZKA Krisztina1, NAGY Zoltán1, MOLNÁR Mária Judit1

JULY 30, 2007

Clinical Neuroscience - 2007;60(07-08)

[The early-onset generalised dystonia is a dyskinetic movement disorder with a wide variety in phenotype and poor response to pharmacological treatment. A mutation on the DYT1 gene is responsible for the disease in more than 50% of cases with typical early-onset dystonia beginning in a limb. We describe the medical history of two brothers with first signs of focal dystonia at age 12 starting with right side lower limb dystonia of the older brother and writers cramp of the younger one. In both over a period of 6 and 10 years dystonia generalised. The negativ results of MRI, electrophisiological testing and muscle biopsy corroborate the diagnosis of primary dystonia. The DNA from the older patient was tested for the 3 bp deletion in exon 5 of the DYT1 gene by restriction enzyme. The positive result confirmed the diagnosis of early-onset primary dystonia. A short synopsis of routine molecular genetic tests indications and treatment options is outlined.]

AFFILIATIONS

  1. Országos Pszichiátriai és Neurológiai Intézet, Budapest

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Further articles in this publication

Clinical Neuroscience

[FUNCTIONAL MRI AT 1 TESLA. BASIC PARADIGMS AND CLINICAL APPLICATION]

SCHWARCZ Attila, AUER Tibor, KOMOLY Sámuel, DÓCZI Tamás, JANSZKY József

[AIM OF THE STUDY - To perform functional MRI experiments at low magnetic field, and to set up routine protocol to help the planning of neurosurgical operations and the examination of epilepsy patients. METHODS - An optimized 2D EPI sequence was applied to yield functional MR images in basic paradigms such as finger tapping and internal word generation. Further, activation was induced also by a task involving mental navigation based on the retrieval of individually familiar visuo-spatial knowledge. RESULTS - Low resolution (matrix of 64×64) functional MR images satisfactorily visualized moto-sensor strip and speech centers. In the mental navigation task bilateral activation of formatio hippocampalis was observed. Determination of motor area was also performed in an epilepsy patient whose seizure focus had been found in the area of pre- and postcentral gyrus. The dislocation of the motor cortex was demonstrated. CONCLUSION - Functional MR images with fine quality can be obtained in basic paradigms even at low magnetic field if MR imaging parameters and paradigms are optimized.]

Clinical Neuroscience

[MORTALITY OF HOSPITALIZED STROKE PATIENTS IN HUNGARY; 2003-2005]

GULÁCSI László, MÁJER István, KÁRPÁTI Krisztián, BRODSZKY Valentin, BONCZ Imre, NAGY Attila, BERECZKI Dániel

[The aim of our research was to assess the incidence and the 12- and 24-month mortality of hospitalized stroke in Hungary. We analyzed the rate of mortality after stroke and compared it to the standard mortality rate of the population. To assess the incidence we extracted the data of “new” stroke patients (ICD- 10 diagnoses: I60-64) hospitalized in May 2003 from the database of the National Health Insurance Fund Administration. We regarded those as “new” patients who had not been treated with these primary or secondary diagnoses in the previous 24 months. Data were collected by sex and age (age groups: 25-44, 45-64, 65 and over). We analyzed the patients' survival on the basis of their April 2004 and April 2005 data. The incidence of the “new” hospitalized stroke patients was higher in men than in women; the incidence in the age group of 65 and over was 2112/100.000 in males and 1582/100.000 in females, the corresponding values in the 45-64 age group were 623 vs. 366 per 100.000, respectively. In 2003 more than 42 thousand “new” stroke patients were hospitalized in Hungary of whom over 10 thousand died in the first year, followed by a further 2 thousand in the second year. Women’s survival is more favourable than men's: in the first year it is 71.47% vs. 69.24% (65+ group), and 88.18% vs. 83.16% (45-64 group); in the second year the corresponding values are 66.95% vs. 61.62% (65+), and 85.45% vs. 80.90% (45-64), respectively. The risk of death in the first year after stroke, compared to the standard population, is 5.17- fold in women and 4.70-fold in men in the total sample, and 10-15-fold in the 45-64 group. There are large differences by gender, particularly in men of the working age groups (25-44, 45-64), whose mortality is twice as high as that of women of the same age.]

Clinical Neuroscience

[INVESTIGATION OF THE EFFECT OF VINPOCETINE ON CEREBRAL BLOOD FLOW AND COGNITIVE FUNCTIONS]

VALIKOVICS Attila

[Introduction - Vinpocetine has been widely used in the treatment of ischaemic cerebrovascular diseases and dementias of vascular type. Chronic cerebral hypoperfusion plays an important role in the development of certain types of dementia. In consequence of complex mode of action vinpocetine plays a significant role in the improvement of cerebral hypoperfusion. The symptoms of mild cognitive impairment considered as “predementia” are similar to those of dementia, although milder. Aims - The authors investigated the characteristics of the blood flow parameters of patients with ischemic stroke and mild cognitive impairment both in resting conditions or following chemical stimulus as well as they investigated the severity of mental deterioration in the two patient groups. In a pilot study the authors examined the influence of 12-week long oral vinpocetine therapy on the blood flow parameters and cognitive functions in the two patient groups. Methods - The authors studied the blood flow velocity of a. cerebri media in resting conditions and after 30 sec of breath holding with transcranial Doppler before treatment and after a 12-week long oral vinpocetine treatment. At the same time psychometric tests (MMSE, ADAS-Cog) were used in order to examine cognitive functions, while the general condition of the patients were scored by Clinical Global Impression (CGI) scale. Results - After a 12-week long oral vinpocetine treatment the increase of blood flow velocity in resting conditions compared to the baseline values was significant in the vascular group. The percent increase of mean velocity after the breath holding TCD test showed a significant increase compared to the baseline in both patient groups. The authors found a significant improvement of cognitive functions after a 12-week long oral vinpocetine therapy using psychometric tests. The improvement was identical in both groups. The general condition of patients improved significantly according to both the investigator's and the patients' opinion; patients with mild cognitive impairment judged the improvement higher. Conclusions - Vinpocetine improved the cerebrovascular reserve capacity in both patient groups and favourably influenced the cognitive status and general condition of patients with chronic hypoperfusion. The authors recommend the use of vinpocetine for the treatment of patients with mild cognitive impairment.]

Clinical Neuroscience

[SOCIAL INSURANCE COSTS OF STROKE HOSPITAL TREATMENTS IN HUNGARY; 2003-2005]

KÁRPÁTI Krisztián, MÁJER István, BONCZ Imre, NAGY Attila, BERECZKI Dániel, GULÁCSI László

[Our aim was to assess the social insurance costs of hospital treatments for acute stroke in Hungary between 2003 and 2005. We studied how much burden stroke patients impose on the financer (National Health Insurance Fund Administration) in acute and chronic hospital admissions. We extracted the data of “new” stroke patients (ICD-10: I60-64 diagnosis) hospitalized in May 2003 from the database of the financer. We analyzed active and chronic hospital treatment costs of these patients in the period of 12 months before the stroke and in the following first and second 12 months. Data were collected by sex and age (age groups: 25-44, 45-64, over 65). We studied patients hospitalized in May 2003 with the ICD-10: I60-64 main diagnosis but not being treated with the same diagnosis in the previous 24 months. In the first 12 months of the active care the burden of the disease was (male vs. female) 65+: 254.6 vs. 205.8; 45-64: 341.4 vs. 280.5; 25-44: 370.1 vs. 306.1 thousand HUF per patient. In the second 12 months the costs were 50.6 vs. 36.2; 24.2 vs. 32.6; 27.6 vs. 24.8 thousand HUF respectively. In the first year following the episode the costs of the chronic hospital treatment were (age groups as above) 23.3 vs. 31.3; 28.9 vs. 22.2; 22.8 vs. 22.5 thousand HUF. A year later the chronic hospital costs were 9.0 vs. 10.9; 6.7 vs. 12.2; 1.4 vs. 38.1 thousand HUF respectively. Average costs of stroke are higher in the case of males as are in the case of females, 364.8 vs. 303.0 thousand HUF in the first 24 months. The remarkable difference results from active hospital treatment costs (331.5 vs. 262.1 thousand HUF), while the discrepancy is smaller in the chronic hospital care (33.3 vs. 40.9 thousand HUF).]

Clinical Neuroscience

[A CASE OF FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INTRANEURONAL INCLUSIONS]

LEEL-ŐSSY Lóránt, RÉVÉSZ Tamás, ALMÁSI Kálmán, SZŰCS Iván, SZABÓ Éva

[The case of a 57 year-old-man is reported who has been treated several times because of his relatively expedite mental decline which has begun four years before his death. His first complaints were forgetfulness, mild changes in his behaviour, confusion and difficulty in speech. The neuropsychiatric examinations displayed a mild difficulty in naming and sometimes comprehension of words, although his speech was gramatically correct. Furthermore the patient presented a very severe decrease in short term memory with dementia and confusion. These symptomes together with the results of CT and test examinations established the diagnosis of Alzheimer's disease. Finally pneumonia afflicted the patient during the last hospitalization and he died. Histopathological examinations of the brain showed a severe, mainly temporofrontal atrophy caused by an extensive cortical neuronal loss and gliosis without neurofibrillar degenerations and senile plaques which characterize the Alzheimer's disease. Tau-positivity Pick- and Lewy-bodies may not be found. The loss of neurons associated in some places with spongiosity of laminar form. The ubiquitine-positive intracytoplasmic inclusions proved to be the most characteristic feature in the swollen neurons. These mainly occurred in the gray matter of the mediobasal part of the temporal lobe. The positivity of GFAP immunocytochemistry revealed a definite astrocytosis in the affected parts of the gray matter. In the temporal and frontal cortex scattered ballooned cells (achromatic or Pick cells) were seen in αB-crystallin immunohistochemistry. These findings confirmed the diagnosis of the case of frontotemporal lobar degeneration with ubiquitin-positive intraneuronal inclusions (FTLD-U) without tau-positivity. The separation of the different forms in the group of the frontotemporal dementias is recommended by means of the modern immunocytochemical examinations.]

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Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease

SENGUL Yildizhan, KOCAK Müge, CORAKCI Zeynep, SENGUL Serdar Hakan, USTUN Ismet

Cognitive dysfunction (CD) is a common non-motor symptom of Parkinson’s disease (PD). Alexithy­mia is a still poorly understood neuropsychiatric feature of PD. Cognitive impairment (especially visuospatial dysfunction and executive dysfunction) and alexithymia share com­mon pathology of neuroanatomical structures. We hypo­thesized that there must be a correlation between CD and alexithymia levels considering this relationship of neuroanatomy. Objective – The aim of this study was to evaluate the association between alexithymia and neurocognitive function in patients with PD. Thirty-five patients with PD were included in this study. The Toronto Alexithymia Scale–20 (TAS-20), Geriatric Depression Inventory (GDI) and a detailed neuropsychological evaluation were performed. Higher TAS-20 scores were negatively correlated with Wechsler Adult Intelligence Scale (WAIS) similarities test score (r =-0.71, p value 0.02), clock drawing test (CDT) scores (r=-0.72, p=0.02) and verbal fluency (VF) (r=-0.77, p<0.01). Difficulty identifying feelings subscale score was negatively correlated with CDT scores (r=-0.74, p=0.02), VF scores (r=-0.66, p=0.04), visual memory immediate recall (r=-0.74, p=0.01). VF scores were also correlated with difficulty describing feelings (DDF) scores (r=-0.66, p=0.04). There was a reverse relationship bet­ween WAIS similarities and DDF scores (r=-0.70, p=0.02), and externally oriented-thinking (r=-0.77,p<0.01). Executive function Z score was correlated with the mean TAS-20 score (r=-62, p=0.03) and DDF subscale score (r=-0.70, p=0.01) Alexithymia was found to be associated with poorer performance on visuospatial and executive function test results. We also found that alexithymia was significantly correlated with depressive symptoms. Presence of alexithymia should therefore warn the clinicians for co-existing CD.

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Clinical Neuroscience

Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Clinical Neuroscience

[What happens to vertiginous population after emission from the Emergency Department?]

MAIHOUB Stefani, MOLNÁR András, CSIKÓS András, KANIZSAI Péter, TAMÁS László, SZIRMAI Ágnes

[Background – Dizziness is one of the most frequent complaints when a patient is searching for medical care and resolution. This can be a problematic presentation in the emergency department, both from a diagnostic and a management standpoint. Purpose – The aim of our study is to clarify what happens to patients after leaving the emergency department. Methods – 879 patients were examined at the Semmel­weis University Emergency Department with vertigo and dizziness. We sent a questionnaire to these patients and we had 308 completed papers back (110 male, 198 female patients, mean age 61.8 ± 12.31 SD), which we further analyzed. Results – Based on the emergency department diagnosis we had the following results: central vestibular lesion (n = 71), dizziness or giddiness (n = 64) and BPPV (n = 51) were among the most frequent diagnosis. Clarification of the final post-examination diagnosis took several days (28.8%), and weeks (24.2%). It was also noticed that 24.02% of this population never received a proper diagnosis. Among the population only 80 patients (25.8%) got proper diagnosis of their complaints, which was supported by qualitative statistical analysis (Cohen Kappa test) result (κ = 0.560). Discussion – The correlation between our emergency department diagnosis and final diagnosis given to patients is low, a phenomenon that is also observable in other countries. Therefore, patient follow-up is an important issue, including the importance of neurotology and possibly neurological examination. Conclusion – Emergency diagnosis of vertigo is a great challenge, but despite of difficulties the targeted and quick case history and exact examination can evaluate the central or peripheral cause of the balance disorder. Therefore, to prevent declination of the quality of life the importance of further investigation is high.]