Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1
نویسندگان
چکیده
منابع مشابه
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disease associated with mutations of ASAH1 gene, which encodes N-acylsphingosine amidohydrolase 1 [1]. It is characterized by progressive proximal muscle weakness due to anterior horn cell degeneration, followed by myoclonic seizures and cognitive decline [1]. Age of onset can range from childhoo...
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INTRODUCTION Spinal muscular atrophies (SMAs) are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and motor cells of cranial nerve nuclei. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy, in some cases, patients may show associated, atypical clinical features ("SMA plus"). In particular, the association of SMA and ...
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Spinal muscular atrophies (SMAs) are characterized by degeneration of spinal motor neurons and muscle weakness. Autosomal recessive SMA is the most common form and is caused by homozygous deletions/mutations of the SMN1 gene. However, families with dominant inherited SMA have been reported, for most of them the causal gene remains unknown. Recently, we and others have identified heterozygous mu...
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BACKGROUND Spinal muscular atrophies (SMAs) are a group of disorders characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem. It is transmitted by autosomal recessive inheritance and most of these conditions are linked to SMN gene. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy, some patients can also ...
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Recently, as diagnostic aids of neurological science, not only electromyography but also other techniques such as motor nerve conduction velocity, evoked potentials and strength-duration curve have been performed. In this paper, the first, the standard value of conduction velocities and the critical value of reduced conduction velocities in pathologic condition were discussed, because the probl...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2012
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.05.001