Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003635 (apraxia)
 2,817 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gaucher disease (GD) without primary neurological involvement (GD1) is now treatable with exogenous enzyme replacement therapy (ERT). ERT does not halt the fatal neurological progression of type 2 (infantile) disease (GD2), but in type 3 disease (GD3), neurological progression may be slowed down or possibly halted in some cases by higher doses of ERT. Therefore, it is crucial to distinguish between GD1 and GD3 disease for appropriate treatment. Saccade initiation failure (SIF) (ocular motor apraxia, supranuclear gaze palsy) is often the earliest neurological sign in GD3. This sign can be difficult to detect clinically, but is readily revealed as missed quick-phases during induced optokinetic and vestibular nystagmus. We investigated whether objective ocular motor assessment could improve the detection of GD3 disease. Eight children, diagnosed enzymatically with GD, were tested using D.C.-electro-oculography and/or video. In 6 children, optokinetic and vestibular nystagmus showed marked paucity of quick-phases making the eyes "lock up" at the limit of gaze, thus indicating SIF. In 3 cases the diagnosis was revised from GD1 to GD3. The diagnosis of GD3 was made in two children who were too ill for clinical assessment of SIF. Only 1 child had previous clinical evidence of SIF, and so GD3 was confirmed. One child was normal and the diagnosis of another remains uncertain. These results show that the possibility of SIF and hence GD3 may not be excluded by clinical examination alone. Thus we recommend that, where possible, objective eye movement assessment be carried out in children with GD.
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PMID:Ocular motor abnormalities in Gaucher disease. 1070 22

Gaucher disease (GD) is the most prevalent lysosomal disorder caused by GBA mutations and abnormal glucocerebrosidase function, leading to glucocerebrosideaccumulation mainly in the liver, spleen, bone marrow, lungs, and occasionally in the central nervous system. Gaucher disease type 3c (GD3c) is a rare subtype of the subacute/chronic neuronopathic GD3, caused by homozygosity for the GBA p.Asp448His (D409H) mutation. GD3c is characterized mainly by cardiovascular and neuro-ophthalmological findings. In this paper, we describe four new GD3c patients exhibiting rare cardiovascular, pulmonary and psychiatric findings, as well as atypical disease courses. Review of the GD3c-related literature revealed clinical descriptions of 36 patients, presenting predominantly with cardiovascular calcifications; 15%, including Patient 1b in this study, had non-calcified lesions - fibrosis and atherosclerosis. Only 7.5% of patients have been described without heart disease, including Patient 3; however, Patient 2 had a fulminant coronary disease. Neurological findings in GD3c consist mainly of oculomotor apraxia (80%), which is absent in Patient 3, while other neurological findings are common (65%) but diverse. Patient 1b developed a psychiatric behavioral disorder, which has not been previously described in GD3c. Patient 1b also had interstitial lung disease, which was only described in one GD3c patient as pulmonary fibrosis. In view of these unique features, we recommend a revised surveillance protocol; however, further studies are required to establish the management of these patients and the role of GBA in the described pathologies.
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PMID:Gaucher disease type 3c: New patients with unique presentations and review of the literature. 3113 Mar 26