Clinical Neuroscience

Analysis of IQ and genotype in duchenne and becker muscular dystrophy

LÁSZLÓ Aranka1, PÓR Erzsébet1, CSEPREGI Zsuzsa1, ENDERFFY Emőke1, RASKÓ István2

SEPTEMBER 20, 1997

Clinical Neuroscience - 1997;50(09-10)

The authors analysed the association of genotype and the intelligence quotient (IQ) examined with age dependent psychological methods (Wechsler, Vineland, Binet, Raven IQ tests) in 41 Duchenne (DMD), 2 intermediate MD, and 14 Becker type muscular dystrophic (BMD) patients (mean age2.5-37 y). ln 61.4% of the DMD/BMD exon deletion of dystrophin gene was found, while in 38.6% no deletion was detected. The assessment of the genotype was made by using multiple PCR method, examining the most frequent deletion of 18 exons and the muscle specific promoter. Among the deletion patients the distribution of mentol retardation was 28.5%, among patients with non deletion 22.7%. ln 21.4% of BMD patients and in 29.2% DMD patients mentol retardation was detected, the differences were not significant. Similar to the findings of other authors in 4 patients having exon deletions near the 5' end of the gene no mentol retardation was found, but in 14 of 30 patients having deletions near the 5' end of the gene there was. One patient with the largest deletion (exons 12-44) proved to be debil.


  1. Department of Paediatrics, Szent-Györgyi Albert Medical University, Department of Genetics
  2. Biological Research Centre, Hungarian Academy of Sciences, Szeged



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Clinical Neuroscience

Management of cavernous angiomas of eloquent brain areas by means of image (MRI or CT) - guided key-hole craniotomy

KÖVÉR Ferenc, DÓCZI Tamás, VON JAKO C., BALÁS István

Details of neurosurgical management of four patients suffering from intractable epilepsy caused by cavernous angiomas of subcortical eloquent brain areas are presented. Two of four cavernomas were not visualized by CT or angiography but only by MRI. MRI or CT stereotactic image-guided key-hole craniotomy and resection of the lesion from the dominant anterior central gyrus (2 cases), from the dominant superior temporal gyrus or from the dominant supramarginal gyrus were performed without any morbidity. The postoperative hospital stay was 3-5 days and all four patients experienced improved seizure control. We conclude that stereotactic image-guided key-hole craniotomy and microsurgical resection offer significant advantages in the treatment of cavernous malformations. Surgical indications include medically refractory epilepsy, intracerebral haemorrhage and/or progressive neurological deficit.

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[Ploidy and proliferative activity of 72 astrocytomas (except glioblastomas) were examined with nuclear DNA content by computed image analysis. The majority of samples originated from paraffin embedded material but they were partly obtained from surgical biopsy by printing or smear technique. The 72 astrocytomas were classified according to Kernohan's grading system. Different areas of tumours were evaluated according to their ploidy (euploid, diploid, aneuploid and heterogenous ranges), proliferative parameters and DNA indices. The transitional zone sometimes revealed higher proliferative index with euploidy. The DNA distribution showed greater population even in the case of moderate malignancy. Uniform – single population - DNA distribution characterized the benign type in 79% with DNA index within the diploid range. The remaining 21% had aneuploidy with another population (heterogenous). The higher the malignancy the greater the population may be found with the higher percentage of S phase cells. The mitotic forms displayed higher DNA index as well as G 2 phase even in the transitional zone of the tumour. The heterogeneity with higher percentage of S- phase correlated well with the histological type of the tumour. The follow-up study of some astrocytomas sometimes did not show a good correlation with the DNA values. However a good correlation was found between the number of cells with higher S and G 2 phases and the type of histogram in the majority of cases studied. The different parts of the tumours also varied in these respects, which should be taken into consideration during needle biopsies.]

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[The classifications of ischemic damage of the brain which have been in use cannot give a suitable orientation about the pathoanatomical background of this disease. As a result of this, the authors investigated the data of 1000 cerebrovascular indoor stroke patients who had been investigated by CT or MRI. The clinical and radiological data were compared. Their conclusion was: more than 80% of the cerebrovascular diseases are ischemic lesions. All of the ischemic patients have some vascular disturbances. In the cases of all patients having some ischemic event (transient ischemic attack, reversible ischemic neurological deficit, prolonged reversible ischemic neurological deficit, completed stroke) there are enduring ischemic lesions which can be demonstrated by CT or MRI. Comparing the neurological signs and the CT or MRI findings of the patients we could establish two groups of ischemic lesions: solitaire and multiplex infarcts. They can be divided into 3 subgroups. Among the solitaire infarcts is subgroup S-1: the patient has no neurological sign and in the CT or MR pictures there is only one lesion under 10 mm in diameter. S-2: mild neurological signs with one infarcted lesion about 15 mm in diameter; as a partial lesion in the territory of a cerebral vessel; S-3: severe neurological signs with total or almost total damage in the territory of a cerebral vessel. Among the multiple infarcted patients there is subgroup M-1: the patient has no neurological sign, but in the CT or MR pictures there are many small (under 5 mm in diameter) infarcted zones; M-2: the patient has mild neurological signs and multiple infarcted zones (5-15 mm in diameter) can be seen in the CT, MRI picture; M-3: the patient has very severe neurological signs and/or dementia. The infarcted areas consist of small and one or more sites of partial or total damage in the territory of a cerebral vessel. This classification is better in showing the state of the patients and the pathoanatomical distur bances. The authors have used this classification in clinical practice without any problems for a year.]

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[Diastematomyelia a rare dysraphic lesion of the spine]

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Clinical Neuroscience

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