Parkinsonism in Type I Gaucher's Disease

Abstract

(Fig. 1). [I-123] MIBG myocardial SPECT revealed persistent low uptake in the inferoposterior area on early phase and complete absence of MIBG uptake in this area on delayed phase. tetrofosmin SPECT revealed low uptake in the septum and inferior areas (Fig. 2), suggesting that the reduced MIBG uptake in these areas was due to old myocardial infarction. However, ECG was normal, and the patient denied any history of apparent myocardial infarction. Levodopa-carbidopa therapy was commenced at an initial dose of 100 mg daily and subsequently increased to 200 mg daily, following which his gait disturbance and hand immobility were resolved.

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

“…Of note, previous studies in Ashkenazi patients, 15 ethnic Chinese patients, 21 and autopsy samples from American PD patients 13 reported the influence of GBA carriage on early age at onset, and the development of parkinsonian symptoms in patients with GD has been reported mainly in patients' fourth and fifth decades. [3][4][5][6][7][8][9][10][11] Moreover, when calculating the average AAO of all homozygous and compound heterozygous GBA carriers published in these studies, together with the six patients from our cohort (a total of 37 patients), the average age at PD onset was 49.0 years, approximately 10 years earlier than the average onset of PD. The high frequency of GBA mutant alleles in the Ashkenazi population together with observations of increased PD risk and early AAO among Ashkenazi carriers suggest that GBA-associated PD might represent a significant health risk in this population.…”

Compounds of the sphingomyelin-ceramide-glycosphingolipid pathways as secondary messenger molecules: new targets for novel therapies for fatty liver disease and insulin resistance

“…Increased concentration of several glycerophosphocholines (PC), glycerophosphoethanolamines (PE), glycerophosphoinositols, glycerophosphoglycerols (PG), LPC, and Cers were detected in the systemic circulation of NASH patients (9,10,39). In morbid obesity patients stratified for NASH, the PL composition in the portal circulation differs, in which they indicate 78,82).…”

“…GC increases the risk of multiple myeloma and T cell dysfunction as a result of high levels of ferritin and/or other factors released by monocytes. However, cases of type I GD coexisting with relatively low serum immunoglobulins, impaired antibody production, and recurrent bacterial infections have been described (82,83,87). All of these underscore that ineffective T cell control exposes GD patients to inflammatory reactions, poor immune responses against infectious agents, and impaired immune surveillance associated with an increased risk of neoplasm (93,95,118,122,161,165).…”

Deficient vesicular storage: A common theme in catecholaminergic neurodegeneration

“…Gaucher/PD patients have striatal dopaminergic neuroimaging findings that resemble those in sporadic PD [10]. Based on results of 123 I-metaiodobenzylguanidine scanning, Gaucher/PD involves cardiac sympathetic denervation that may be diffuse or localized to the inferoposterior myocardium [11, 12]. We analyzed post-mortem data about putamen catechols in 4 Gaucher/PD patients (mean age 62 ± 4 years, 3 men and 3 women, all white).…”