Association of severity of spinal muscular atrophy with the loss of NAIP gene.
نویسنده
چکیده
Neurology India | September 2006 | Vol 54 | Issue 3 246 CMYK Neurodegenerative diseases with known neuropathologies provide a natural laboratory for the study of functional neural circuitry. Systematic cognitive probing of diseases of differing neuropathology offers the hope of understanding the contributions of select neural systems in mediating distinct cognitive processes. It can also reveal differential cognitive risks and morbidities imposed by specific diseases, important to the clinician. In this issue of Neurology India, Krishnan and colleagues report their observations on global and frontal cognition in three neuropathologically different neurodegenerative disorders, progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and Parkinson’s disease (PD). Their study incorporates Cognitive substrates and their treatments in neurodegenerative diseases Invited Commentaries
منابع مشابه
SMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran
Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...
متن کاملبررسی ژن NAIP در مبتلایان به بیماری آتروفی عضلانی ـ نخاعی در منطقه‌ی آذربایجان شرقی طی سال‌های 1383 تا 1384
Background: Spinal muscular atrophy includes a group of neuromuscular disorders characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness. NAIP is one of the genes that inhibits motor neuron apoptosis. Deletion of this gene is usually observed in type I SMI. The aim of this study was to investigate the frequency and pathogenicity of NAIP...
متن کاملبررسی ارتباط فنوتیپ و ژنوتیپ در بیماران مبتلا به آتروفی عضلانی ـ نخاعی در منطقه‌ی آذربایجان شرقی
Background and Objectives: The neuromuscular degenerative disorder, known as spinal muscular atrophy (SMA), is a common fatal disease in neonates. In most patients with SMA, exon 7 and/or exon 8 of SMN1 gene is deleted. It is reported that the deletion of exon 5 from NAIP gene may be involved in the severity of SMA disease. The present study was aimed to evaluate the genotype- phenotype correla...
متن کاملMolecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity.
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness and atrophy. At least three SMA-related genes have been identified: SMN1, NAIP and p44t. We analyzed these genes in 32 SMA patients and found that the SMN1 gene was deleted in 30 of 32 patients (...
متن کاملDeletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy.
Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuronopathies characterized by selective degeneration of anterior horn cells. The causative genes to be reported are survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes. The deletion of telomeric copy of SMN (SMN(T)) gene was observed in over 95...
متن کاملDeletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.
The SMN1 and NAIP genes are related to the development of spinal muscular atrophy (SMA), which is characterized by degeneration of motor neurons leading to progressive muscular weakness and atrophy. The SMN1 gene is homozygously deleted in most SMA patients, and now recognized as a responsible gene for SMA. The NAIP gene is often deleted in the SMA patients with the severest form of SMA, and no...
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ورودعنوان ژورنال:
- Neurology India
دوره 54 3 شماره
صفحات -
تاریخ انتشار 2006