Biomaterial Database

Alpha-1-antitrypsin phenotypes and associated disease patterns in neurological patients. 1995

Y I Lolin, and A M Ward

Department of Chemical Pathology, National Hospitals for Neurology and Neurosurgery, Queen Square, London, England.

BACKGROUND Alpha-1-antitrypsin (AAT) deficiency is usually associated with lung or liver disease. It is often detected as a qualitative reduction of the alpha-1 band on the serum protein electrophoretic pattern. METHODS We examined the protein electrophoretic pattern in sera of 22980 unselected consecutive patients with neurological disorders and noted a reduced alpha-1 band in 88. Their phenotypes were compared with the clinical disease. RESULTS 75 patients had a deficient or non-M and 13 the usual MM phenotype. Contrary to in the general population, PiMZ was four times more common than PiMS. Vascular disease was more common in patients with PiMZ while multiple sclerosis significantly more frequent in patients with PiMS than with other phenotypes, including PiMM. CONCLUSIONS Other genetic abnormalities have previously been found in AAT associated with multiple sclerosis, but not PiMS. Since PIMS leads to modest reduction of AAT activity, the association may be through other mechanisms than reduced protease activity.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009103	Multiple Sclerosis	An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)	MS (Multiple Sclerosis),Multiple Sclerosis, Acute Fulminating,Sclerosis, Disseminated,Disseminated Sclerosis,Sclerosis, Multiple
D009369	Neoplasms	New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.	Benign Neoplasm,Cancer,Malignant Neoplasm,Tumor,Tumors,Benign Neoplasms,Malignancy,Malignant Neoplasms,Neoplasia,Neoplasm,Neoplasms, Benign,Cancers,Malignancies,Neoplasias,Neoplasm, Benign,Neoplasm, Malignant,Neoplasms, Malignant
D009422	Nervous System Diseases	Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.	Neurologic Disorders,Nervous System Disorders,Neurological Disorders,Disease, Nervous System,Diseases, Nervous System,Disorder, Nervous System,Disorder, Neurologic,Disorder, Neurological,Disorders, Nervous System,Disorders, Neurologic,Disorders, Neurological,Nervous System Disease,Nervous System Disorder,Neurologic Disorder,Neurological Disorder
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D002561	Cerebrovascular Disorders	A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others.	Brain Vascular Disorders,Intracranial Vascular Disorders,Vascular Diseases, Intracranial,Cerebrovascular Diseases,Cerebrovascular Insufficiency,Cerebrovascular Occlusion,Brain Vascular Disorder,Cerebrovascular Disease,Cerebrovascular Disorder,Cerebrovascular Insufficiencies,Cerebrovascular Occlusions,Disease, Cerebrovascular,Diseases, Cerebrovascular,Insufficiencies, Cerebrovascular,Insufficiency, Cerebrovascular,Intracranial Vascular Disease,Intracranial Vascular Diseases,Intracranial Vascular Disorder,Occlusion, Cerebrovascular,Occlusions, Cerebrovascular,Vascular Disease, Intracranial,Vascular Disorder, Brain,Vascular Disorder, Intracranial,Vascular Disorders, Brain,Vascular Disorders, Intracranial
D004830	Epilepsy, Tonic-Clonic	A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)	Epilepsy, Grand Mal,Epilepsy, Major,Grand Mal Seizure Disorder,Major Motor Seizure Disorder,Seizure Disorder, Tonic Clonic,Convulsions, Grand Mal,Cryptogenic Tonic-Clonic Epilepsy,Epilepsy, Tonic-Clonic, Cryptogenic,Epilepsy, Tonic-Clonic, Familial,Epilepsy, Tonic-Clonic, Symptomatic,Familial Tonic-Clonic Epilepsy,Seizure Disorder, Grand Mal,Seizure Disorder, Major Motor,Symptomatic Tonic-Clonic Epilepsy,Tonic Clonic Convulsions,Tonic-Clonic Convulsion Disorder,Tonic-Clonic Convulsion Syndrome,Tonic-Clonic Seizure Disorder,Tonic-Clonic Seizure Syndrome,Convulsion Disorder, Tonic-Clonic,Convulsion Disorders, Tonic-Clonic,Convulsion Syndrome, Tonic-Clonic,Convulsion Syndromes, Tonic-Clonic,Convulsion, Grand Mal,Convulsion, Tonic Clonic,Convulsions, Tonic Clonic,Cryptogenic Tonic Clonic Epilepsy,Cryptogenic Tonic-Clonic Epilepsies,Disorder, Tonic-Clonic Convulsion,Disorder, Tonic-Clonic Seizure,Disorders, Tonic-Clonic Convulsion,Disorders, Tonic-Clonic Seizure,Epilepsies, Cryptogenic Tonic-Clonic,Epilepsies, Familial Tonic-Clonic,Epilepsies, Symptomatic Tonic-Clonic,Epilepsies, Tonic-Clonic,Epilepsy, Cryptogenic Tonic-Clonic,Epilepsy, Familial Tonic-Clonic,Epilepsy, Symptomatic Tonic-Clonic,Epilepsy, Tonic Clonic,Familial Tonic Clonic Epilepsy,Familial Tonic-Clonic Epilepsies,Grand Mal Convulsion,Grand Mal Convulsions,Grand Mal Epilepsy,Major Epilepsies,Major Epilepsy,Seizure Disorder, Tonic-Clonic,Seizure Disorders, Tonic-Clonic,Seizure Syndrome, Tonic-Clonic,Seizure Syndromes, Tonic-Clonic,Symptomatic Tonic Clonic Epilepsy,Symptomatic Tonic-Clonic Epilepsies,Syndrome, Tonic-Clonic Convulsion,Syndrome, Tonic-Clonic Seizure,Syndromes, Tonic-Clonic Convulsion,Syndromes, Tonic-Clonic Seizure,Tonic Clonic Convulsion,Tonic Clonic Convulsion Disorder,Tonic Clonic Convulsion Syndrome,Tonic Clonic Seizure Disorder,Tonic Clonic Seizure Syndrome,Tonic-Clonic Convulsion Disorders,Tonic-Clonic Convulsion Syndromes,Tonic-Clonic Epilepsies,Tonic-Clonic Epilepsies, Cryptogenic,Tonic-Clonic Epilepsies, Familial,Tonic-Clonic Epilepsies, Symptomatic,Tonic-Clonic Epilepsy,Tonic-Clonic Epilepsy, Cryptogenic,Tonic-Clonic Epilepsy, Familial,Tonic-Clonic Epilepsy, Symptomatic,Tonic-Clonic Seizure Disorders,Tonic-Clonic Seizure Syndromes
D005260	Female		Females
D005787	Gene Frequency	The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.	Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies