Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.2.1.23 (beta-galactosidase)
14,648 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe three brothers with type 3 GM1 gangliosidosis presenting as dystonia. The ages of the patients when examined were 28, 31, and 33. They had developed dysarthria with facial grimacing since early childhood. The common neurological sign was generalized dystonia. Both dystonic postures and dystonic movements resulting from varying degrees of fixed rigidity of each muscle involved did not disappear when the patients were lying or sitting relaxed. There was no correlation between the severity of dystonia and the residual activities of acid beta-galactosidase. Magnetic resonance imaging (MRI) showed bilaterally symmetric high intensity lesions only in the putamen on T2-weighted and proton density images. Selective putaminal changes on MRI may be the lesions most responsible for symptomatic dystonia in this disorder.
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PMID:Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. 133 95

GM1-gangliosidosis is a rare neurovisceral storage disease caused by an inherited deficiency of acid beta-galactosidase. The characteristic neurological feature of type 3 (adult or chronic) GM1-gangliosidosis is usually a slowly progressive dystonia with dysarthria due to predominant involvement of basal ganglia. About 20 adult patients with this disorder have been reported in the literature. However, there are no reports of 3 brothers with type 3 GM1-gangliosidosis, and MRI findings. Case 1 (proband): A 28-year-old man was hospitalized because of facial grimace, dysarthria, and generalized dystonia. He was born after normal pregnancy and delivery. His development was normal until 3 years of age when the difficulties of speaking and walking were noticed by his parents. These neurological abnormalities progressed slowly and facial grimace and dystonic movements occurred 7 years later. He could not walk at 22 years of age. On admission, he was bedridden with marked scoliosis and subluxation of the mandibule. The communication was possible only by pointing the words written on the board. Case 2: A 33-year-old man, elder brother of case 1, showed the similar neurological features and clinical course. Slit-lamp examination revealed corneal opacities which were located in the deep stroma. Case 3: A 33-year-old man, elder brother of case 1 or case 2. At age 10-11, he noted similar symptoms as case 1 or case 2. The severity of dystonia was milder than his brothers. A diagnosis of GM1-gangliosidosis in three patients was made on the basis of the following data.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Three siblings with type 3 GM1-gangliosidosis--pathophysiology of dystonia and MRI findings]. 212 60

Clinical and biochemical studies are reported on a 32-year-old man with GM1 gangliosidosis who presented with a slowly progressive dystonia that began when he was aged 7 years and eventually became almost totally incapacitating at the age of 35. There was only mild intellectual deterioration, but myoclonus, seizures and macular cherry-red spots were never observed. Proton-density and T2-weighted MRI scans showed symmetrical hyperintense lesions of both putamina. No increase of GM1 ganglioside was found in plasma or cerebrospinal fluid, and the metabolism of GM1 ganglioside in cultured skin fibroblasts from the patient was also almost normal, although the residual activity of GM1 ganglioside beta-galactosidase activity was only 10% of normal. These findings suggest that impaired GM1 ganglioside metabolism is not present systemically as it is in the infantile and juvenile types of the disorder, but is mainly confined to the central nervous system in chronic GM1 gangliosidosis.
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PMID:A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies. 212 25

Type III GM1-gangliosidosis is a rare hereditary storage disease caused by lack of lysosomal beta-galactosidase and characterized by a slowly progressive course, and extrapyramidal signs, but without prominent skeletal changes or visceromegaly. The storage substance was reported to be located only in the basal ganglia. There has been no detailed report on visceral lesions in type III GM1-gangliosidosis. In this report we describe a case of type III GM1-gangliosidosis, and the histochemical and ultrastructural findings from biopsied rectum. The patient was a 22-year-old female who exhibited dysarthria, gait disturbance, and generalized dystonia with rigidity. Beta-galactosidase activity in leukocytes was absent and sialidase activity in cultured fibroblasts was normal. Many histiocytes were found in biopsied rectal mucosa. Histochemical studies showed that the granules of histiocytes contained acidic glycoconjugates, beta-galactose, beta-N-acetylgalactosamine and sialic acid. Ultrastructural investigations revealed that ganglion cells of Meissner's plexus had many osmiophilic lamellar inclusions, similar to "membranous cytoplasmic bodies". These findings are crucial for the clinical diagnosis of type III GM1-gangliosidosis.
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PMID:Type III (chronic) GM1-gangliosidosis. Histochemical and ultrastructural studies of rectal biopsy. 393 2

Clinical and pathological studies are reported from investigation of a 27-year-old man with GM1 gangliosidosis who experienced a slowly progressive dystonia that began about age 4, primarily affected the face and limbs, and eventually became almost totally incapacitating. There was only mild intellectual deterioration; myoclonus, seizures, and macular cherry-red spots were never observed. Postmortem examination revealed intraneuronal storage, localized predominantly to the basal ganglia, in which neurons contained round, multilamellated inclusions. Golgi studies revealed meganeurites arising from medium spiny neurons. Other areas of the central nervous system appeared relatively unaffected, although small basilar dilatations were observed in scattered cortical pyramidal neurons and Purkinje cell dendrites showed focal swellings. Vacuolated cells of the reticuloendothelial system were observed, including Kupffer cells and histiocytes in the spleen, marrow, and intestinal tract. Biochemical analysis revealed a generalized beta-galactosidase deficiency with specific accumulation of GM1 ganglioside in the basal ganglia.
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PMID:Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features. 679 74

An 11-year-old Japanese girl was diagnosed as having type 3 GM1 gangliosidosis by clinical symptoms and enzyme assay. She was the youngest among the patients with type 3 GM1 gangliosidosis whose clinical and neuroradiological findings have been documented. Clumsiness since early infancy and dystonia since early childhood which progressed slowly without mental deterioration and dysmorphism led us to the diagnosis of type 3 GM1 gangliosidosis. Genotype determination showed point mutation in exon 2 of the beta-galactosidase gene, which is common among the patients reported in Japan. T2-weighted MRI demonstrated bilateral symmetrical hypointensity in the putamen and globus pallidus. Single photon emission computed tomography using 99mTc-HMPAO showed bilateral hyperperfusion in the basal ganglia which decreased gradually during 1 year of observation. Twenty-two patients with type 3 GM1 gangliosidosis reported in the literature whose onset was at under 15 years of age were reviewed.
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PMID:Type 3 GM1 gangliosidosis: clinical and neuroradiological findings in an 11-year-old girl. 893 63

We report neuropathologic findings for a 66-year-old Japanese man with adult/chronic GM1 gangliosidosis whose main clinical symptoms were speech and gait disturbance attributable to dystonia with rigidity. He was a homozygote for the 51isoleucine (ATC)-->threonine (ACC) mutation in the beta-galactosidase gene. Neuronal loss and intracytoplasmic storage were most prominent in the caudate nucleus and putamen and, to a lesser degree, in the amygdala, globus pallidus, and Purkinje cells in the cerebellum. Other areas of the CNS were relatively spared. We believe that this selective neuronal involvement in the CNS is characteristic of adult/chronic GM1 gangliosidosis and that it reflects a more active turnover of GM1 ganglioside in the affected areas than elsewhere in the CNS.
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PMID:Adult GM1 gangliosidosis: immunohistochemical and ultrastructural findings in an autopsy case. 799 Nov 29

We experienced two siblings of type 3 GM1 gangliosidosis. A 33-year-old woman developed dysarthria, dysbasia and bradykinesia at around the age of 30. Her 28-year-old brother showed locomotor retardation and skeletal deformity in infancy. He lost the ability to stand walk at childhood, and developed progressive dystonia. The major neurologic manifestations were parkinsonian symptoms in the elder sister, and progressive dystonia in her brother. Both had markedly reduced beta-galactosidase activity in peripheral blood lymphocyte and were diagnosed as having type 3 GM1 gangliosidosis. Gene analysis revealed that these patients were homozygotes of the adult type mutant gene. The two siblings are unique in that the clinical manifestations and the age of onset of symptoms differed markedly between them despite the same mutant gene in both cases.
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PMID:[Two siblings of type 3 GM1 gangliosidosis with different clinical features and different ages of onset]. 840 83

Fibroblast growth factor 14 (FGF14) belongs to a distinct subclass of FGFs that is expressed in the developing and adult CNS. We disrupted the Fgf14 gene and introduced an Fgf14(N-beta-Gal) allele that abolished Fgf14 expression and generated a fusion protein (FGF14N-beta-gal) containing the first exon of FGF14 and beta-galactosidase. Fgf14-deficient mice were viable, fertile, and anatomically normal, but developed ataxia and a paroxysmal hyperkinetic movement disorder. Neuropharmacological studies showed that Fgf14-deficient mice have reduced responses to dopamine agonists. The paroxysmal hyperkinetic movement disorder phenocopies a form of dystonia, a disease often associated with dysfunction of the putamen. Strikingly, the FGF14N-beta-gal chimeric protein was efficiently transported into neuronal processes in the basal ganglia and cerebellum. Together, these studies identify a novel function for FGF14 in neuronal signaling and implicate FGF14 in axonal trafficking and synaptosomal function.
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PMID:Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. 1212 6

Deficiency of enzyme acid beta-galactosidase causes GM1 gangliosidosis. Patients with adult GM1 gangliosidosis typically present with generalized dystonia. We describe clinical, bone marrow, and radiological features of adult GM1 gangliosidosis to help improve its recognition. We report 3 Indian patients and review of reports between 1981 and October 2002. The disease frequently is reported in the Japanese literature (75%). Patients are normal at birth and have normal early motor and mental development. Onset is within the first decade with abnormal gait, or worsening of speech is an initial symptom. Dystonia occurs in 97% of patients. Facial dystonia described as "facial grimacing" observed in approximately 90% could be an important clinical clue. Dysarthria/anarthria (97%) is frequent, and eye movements are normal. Bone marrow examination may show Gaucher-like foam cells (39%). Magnetic resonance imaging (MRI) frequently (90.9%) shows bilateral symmetrical putamenal hyperintensities on T2-weighted and proton density images. Diagnosis is confirmed by demonstrating deficiency of beta-galactosidase. Adult (Type 3) GM1 Gangliosidosis commonly presents with generalized dystonia with prominent facial dystonia, severe speech disturbances, and normal eye movements. Bone marrow frequently shows Gaucher-like foam cells. MRI shows typical lesions in the putamen. Deficiency of beta-galactosidase in fibroblasts confirms the diagnosis.
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PMID:Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. 1538 93


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