Gaucher Disease
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What is Gaucher disease, type 2?
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. Type 2 Gaucher disease is characterized by onset in infancy and severe involvement of the central nervous system (the brain and spinal cord).
Gaucher disease, type 2 is a subtype of Gaucher disease.
As in other types of Gaucher disease, signs and symptoms of type 2 include enlargement of the liver and spleen (hepatosplenomegaly). Type 2 is known as the acute neuronopathic form of the disease because the central nervous system is also affected, causing progressive brain damage, seizures, paralysis of the eye muscles, abnormal muscle tone, and choking spells. These signs and symptoms first appear in infancy. People with type 2 Gaucher disease usually live only into early childhood.
How common is Gaucher disease, type 2?
This rare condition is seen in fewer than 1 in 500,000 births. Unlike type 1, type 2 Gaucher disease is not more frequent in the Ashkenazi (central and eastern European) Jewish population.
What genes are related to Gaucher disease, type 2?
Mutations in the GBA gene cause Gaucher disease, type 2.
Mutations in the GBA gene lead to extremely low levels of an enzyme called beta-glucocerebrosidase. This enzyme usually breaks down a lipid called glucocerebroside into a sugar (glucose) and a simpler fat molecule. Without functional beta-glucocerebrosidase, glucocerebroside can build up in the body's cells. The abnormal accumulation of this substance damages tissues and organs, causing the characteristic features of Gaucher disease.
How do people inherit Gaucher disease, type 2?
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
Source: National Institutes of Health
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Scientists at University College, Institute of Neurology describe research in Gaucher disease pathology
2009 JUL 13 - (NewsRx.com) -- A new study, 'Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease,' is now available. "Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series with sporadic Parkinson's disease," scientists in London, the United Kingdom report. "In this study, we evaluated the frequency of GBA mutations in British patients affected by Parkinson's disease. We utilized the DNA of 790 patients and 257 controls, matched for age and ethnicity, to screen for mutations within the GBA gene. Clinical data on all identified GBA mutation carriers was reviewed and analysed. Additionally, in all cases where brain material was available, a neuropathological evaluation was performed and compared to sporadic Parkinson's disease without GBA mutations. The frequency of GBA mutations among the British patients (33/790=4.18%) was significantly higher (p=0.01; odds ratio=3.7; 95% confidence interval=1.12-12.14) when compared to the control group (3/257=1.17%). Fourteen different GBA mutations were identified, including three previously undescribed mutations, K7E, D443N and G193E. Pathological examination revealed widespread and abundant alpha-synuclein pathology in all 17 GBA mutation carriers, which were graded as Braak stage of 5-6, and had McKeith's limbic or diffuse neocortical Lewy body-type pathology. Diffuse neocortical Lewy body-type pathology tended to occur more frequently in the group with GBA mutations compared to matched Parkinson's disease controls. Clinical features comprised an early onset of the disease, the presence of hallucinations in 45% (14/31) and symptoms of cognitive decline or dementia in 48% (15/31) of patients. This study demonstrates that GBA mutations are found in British subjects at a higher frequency than any other known Parkinson's disease gene," wrote J. Neumann and colleagues, University College, Institute of Neurology. The researchers concluded: "This is the largest study to date on a non-Jewish patient sample with a detailed genotype/phenotype/pathological analyses which strengthens the hypothesis that GBA mutations represent a significant risk factor for the development of Parkinson's disease and suggest that to date, this is the most common genetic factor identified for the disease." Neumann and colleagues published their study in Brain (Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain, 2009;132(Pt 7):1783-94). For more information, contact J. Neumann, Institute of Neurology, Dept. of Molecular Neuroscience, University College London, London, UK. Publisher contact information for the journal Brain is: Oxford University Press, Great Clarendon St., Oxford OX2 6DP, England. Keywords: United Kingdom, London, Gaucher Disease Pathology, Central Nervous System Disease, DNA, Enzyme Research, Gaucher Disease, Glucocerebrosidase, Hematology, Neurology, Parkinson Disease, Parkinsonian Disorders, Parkinsonism, Pathology, Urology. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2009, Pain & Central Nervous System Week via NewsRx.com.
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