Biomaterial Database

Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy. 1989

I Niebroj-Dobosz, and I Hausmanowa-Petrusewicz

Department of Neurology, Medical School, Warsaw, Poland.

Serum acetylcholinesterase (AChE) and pseudocholinesterase (ChE) activity in infantile and juvenile spinal muscular atrophy (SMA) was determined. The total AChE activity was either normal or decreased in the childhood SMA (Type 1), the other SMA groups and disease controls (ALS, X-linked SMA). In the majority of SMA Type 1 cases (6/7 tested) an absence of the asymmetric A12 form was found. This was accompanied by changes in the other asymmetric and globular forms. The latter was, however, not specific for SMA Type 1 cases. The ChE activity was increased in the majority of SMA cases as well as disease controls. The asymmetric A12 ChE form was increased in all SMA Type 3 cases, the values of this form in SMA Type 1 was variable. A change in the ChE globular forms in SMA Type 1 and SMA Type 2 was a frequent finding. It is suggested that the absence of the asymmetric A12 AChE form in SMA Type 1 arises because of muscle cell immaturity and undeveloped muscle-nerve interactions. The reason of ChE changes is obscure.

UI	MeSH Term	Description	Entries
D009134	Muscular Atrophy, Spinal	A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)	Bulbospinal Neuronopathy,Oculopharyngeal Spinal Muscular Atrophy,Progressive Muscular Atrophy,Scapuloperoneal Form of Spinal Muscular Atrophy,Spinal Muscular Atrophy,Adult Spinal Muscular Atrophy,Adult-Onset Spinal Muscular Atrophy,Amyotrophy, Neurogenic Scapuloperoneal, New England Type,Distal Spinal Muscular Atrophy,Hereditary Motor Neuronopathy,Muscular Atrophy, Adult Spinal,Myelopathic Muscular Atrophy,Myelopathic Muscular Atrophy, Progressive,Progressive Myelopathic Muscular Atrophy,Progressive Proximal Myelopathic Muscular Atrophy,Proximal Myelopathic Muscular Atrophy, Progressive,Scapuloperoneal Spinal Muscular Atrophy,Spinal Amyotrophy,Spinal Muscular Atrophy, Distal,Spinal Muscular Atrophy, Oculopharyngeal,Spinal Muscular Atrophy, Scapuloperoneal,Spinal Muscular Atrophy, Scapuloperoneal Form,Adult Onset Spinal Muscular Atrophy,Amyotrophies, Spinal,Amyotrophy, Spinal,Atrophies, Progressive Muscular,Atrophy, Myelopathic Muscular,Atrophy, Progressive Muscular,Atrophy, Spinal Muscular,Bulbospinal Neuronopathies,Hereditary Motor Neuronopathies,Motor Neuronopathies, Hereditary,Motor Neuronopathy, Hereditary,Muscular Atrophies, Progressive,Muscular Atrophy, Myelopathic,Muscular Atrophy, Progressive,Neuronopathies, Bulbospinal,Neuronopathies, Hereditary Motor,Neuronopathy, Bulbospinal,Neuronopathy, Hereditary Motor,Progressive Muscular Atrophies,Spinal Amyotrophies
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002802	Cholinesterases		Acylcholineacylhydrolase,Cholase,Cholinesterase
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014897	Spinal Muscular Atrophies of Childhood	A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)	Infantile Spinal Muscular Atrophy,Juvenile Spinal Muscular Atrophy,Kugelberg-Welander Disease,Muscular Atrophy, Spinal, Infantile,Spinal Muscular Atrophy, Infantile,Spinal Muscular Atrophy, Juvenile,Werdnig-Hoffmann Disease,HMN (Hereditary Motor Neuropathy) Proximal Type I,Kugelberg-Welander Syndrome,Muscular Atrophy, Infantile,Muscular Atrophy, Juvenile,Muscular Atrophy, Spinal, Infantile Chronic Form,Muscular Atrophy, Spinal, Intermediate Type,Muscular Atrophy, Spinal, Type I,Muscular Atrophy, Spinal, Type II,Muscular Atrophy, Spinal, Type III,Proximal Hereditary Motor Neuropathy Type I,SMA, Infantile Acute Form,Spinal Muscular Atrophy 1,Spinal Muscular Atrophy Type 2,Spinal Muscular Atrophy Type I,Spinal Muscular Atrophy Type II,Spinal Muscular Atrophy Type III,Spinal Muscular Atrophy, Mild Childhood and Adolescent Form,Spinal Muscular Atrophy, Type 3,Spinal Muscular Atrophy, Type I,Spinal Muscular Atrophy, Type II,Spinal Muscular Atrophy, Type III,Type I Spinal Muscular Atrophy,Type II Spinal Muscular Atrophy,Type III Spinal Muscular Atrophy,Werdnig Hoffman Disease,Infantile Muscular Atrophy,Juvenile Muscular Atrophy,Kugelberg Welander Disease,Kugelberg Welander Syndrome,Werdnig Hoffmann Disease