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Clinical Neuroscience

NOVEMBER 30, 2009

[Quantitative analysis of the genes determining spinal muscular atrophy]


[Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately one in 10.000 live births and with a carrier frequency of approximately one in 35. The disease is caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN1 and SMN2 genes. Due to a single nucleotide polymorphism in exon 7, SMN2 produces less full-length transcript than SMN1 and cannot prevent neuronal cell death at physiologic gene dosages. On the other hand, the copy number of SMN2 affects the amount of SMN protein produced and the severity of the SMA phenotype. SMN gene dosage analysis can determine the copy number of SMN1 to detect carriers and patients heterozygous for the absence of SMN1 exon 7. This study provides copy number estimation of SMN1 gene by real-time PCR technique in 56 SMA type I., II., III. patients, 159 parents and healthy relatives and in 152 undefined SMA patients. Among the family members, 91 carriers have been detected and in 56 patients homozygous deletion of SMN1 exon 7 has been confirmed. Moreover, in 12 patients compound heterozygosity of SMN1 exon 7 mutation has been detected, thus providing the possible diagnosis of SMA. In 94 patients, copy number of SMN2 has also been evaluated and a good correlation has been found with the phenotype of the disease. Due to the genetic complexity and the high carrier frequency, accurate risk assessment and genetic counselling are particularly important for the families. These new results provide improvement of the diagnostic service in SMA in Hungary with focus on proper genetic counselling and possible enrolment of the patients in future therapeutic interventions.]

Clinical Neuroscience

OCTOBER 10, 2005

[Frontotemporal dementia - Part III - Clinical diagnosis and treatment]

GALARIOTIS Vasilis, BÓDI Nikoletta, JANKA Zoltán, KÁLMÁN János

[The authors report a comprehensive publication consisting of three parts going into the details of history, prevalence, clinical forms, differential diagnosis, genetics, molecular pathomechanism, and pathology, clinical diagnosis and treatment of frontotemporal dementia (FTD). The third part of the present review focuses on the clinical diagnosis and treatment of FTD. The diagnosis of FTD is problematic even today. Mental status, psychometric testing as well as imaging studies such as PET and SPECT, and laboratory examinations may be helpful in the diagnosis. Unfortunately, bedside tests are generally insensitive to mild dysexecutive deficits. Most of FTDs do not have characteristic laboratory abnormalities or brain atrophy sufficient to set up the diagnosis; these only allow to rule out other disorders and assume the diagnosis of FTD. An effective treatment for FTD is still to be established. The improvement of serotonin metabolism has been proposed as a biological treatment. Recent studies suggest that bromocriptine may improve selective frontal symptoms, but this and the efficacy of other dopaminergic drugs need further evaluation. Drugs that prevent the expression or accumulation of tau seem to be the most promising causal approach. In aphasia behavioral therapy may be attempted. In addition, caregiver management is essential, because as with those of Alzheimer’s dementia patients, they also carry a significant psychosocial stress.]

Hungarian Immunology

JUNE 20, 2002

[Ocular myositis]

KISS Emese, FACSKÓ Andrea, DÉVÉNYI Katalin, DANKÓ Katalin, ZEHER Margit

[INTRODUCTION - Dermato-/polymyositis is an autoimmune disorder, which belongs to the idiopathic inflammatory myopaties. It involves skeletal muscles in form of weakness and inflammatory infiltrates. Characteristic skin lesions are present in dermatomyositis. Other organs may also be affected mainly in the presence of myositis specific autoantibodies. The inflammation usually involves the proximal muscles of extremities. CASE REPORT - In the present work we report the case of a 52-year-old woman. In the previous history the removal of rectal adenocarcinoma was remarkable in 1994. After that she received chemotherapy. She complied for severe headache and pain in the right eye in 2000 October, therefore a skull CT was performed, indicating thickening of rectus medalis muscle within orbital cavity. There was an enhancement of contrast material in the muscle. Glaucoma was excluded. Neurologist suspected the presence of myositis and indicated 0.5 mg/kg corticosteroid therapy. Soon after the left eye became painful, but due to the corticosteroid treatment both eyes became painless. A control orbital CT was completely negative in 2000 November. Immunology consultancy revealed a mild proximal muscle atrophy in both lower extremities, but CPK and LDH enzyme levels were normal, EMG was characteristic for mild chronic nerve lesion. The biopsy, taken from the involved proximal muscle of lower extremity, did not show inflammatory infiltration. Complete screening for cancer was negative. Thyroid gland disease could be excluded. Immune laboratory data were negative, autoantibodies, including anti-Jo1, could not be detected. Based on the results a rare disease, ocular myositis was diagnosed. Considering the clinical improvement, the withdrawal of corticosteroid therapy was offered. Stringent immunology and oncology follow-up is required. CONCLUSION - In relation to our case report, we discuss clinical symptoms of orbital myositis, diagnostic procedures to identify the disease and also differential diagnostic considerations.]