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PubMed2005

Differentiation- and maturation-dependent content, localization, and secretion of cystatin C in human dendritic cells.

Antigen-presenting cells (APC) play a pivotal role in the initiation of the T cell-mediated and antigen-specific immune response. The suggested role of endogenous inhibitor cystatin C (CyC) is to modulate cysteine proteases (cathepsins) present in human APC. To test this hypothesis, dendritic cells (DC) were generated in vitro from isolated monocytes, and changes in content, localization, and secretion of CyC and cathepsins S, L, and H (CatS, -L, and -H, repsectively) were followed in response to interleukin-4, enabling monocyte differentiation, and to tumor necrosis factor alpha (TNF-alpha), enabling DC maturation. A large increase in intracellular CyC accompanied the differentiation of monocytes to immature DC, also shown by strong immunolabeling of Golgi in immature DC. On DC maturation, intracellular CyC levels decreased, and CyC was mostly absent from the Golgi. On prolonged incubation of mature DC with TNF-alpha, CyC was found located in the proximity of the plasma membrane, indicating that the transport of CyC from Golgi was not blocked as the result of the arrested exocytosis in mature DC. The secretion of CyC ceased, consistent with the peak of the surface expression of phenotypic markers (CD40, CD54, CD80, CD83, CD86, and major histocompatibility complex class II), characteristic for the mature DC stage, whereas the secretion of cathepsins did not correlate with the maturation stage. The difference in localization of CyC and of CatS, -L, and -H in immature and mature DC shows that the regulatory potential of CyC toward CatS, -L, and -H inside DC is limited. However, these interactions may occur extracellularly in lymph, as suggested by the large excess of CyC over secreted CatS, -L, and -H, and they may facilitate DC migration to lymph nodes.

Antigen Presentation↗
PubMed2005

Cystatin C as a risk factor for Alzheimer disease.

Cystatin C, a protease inhibitor with widespread distribution, is upregulated in response to injury. Levels are elevated in the brains of patients with Alzheimer disease (AD). We compared frequencies for the CST 3 exon 1 polymorphism in patients with AD and controls. A proportional odds model indicated that the CST 3 A and APOE4 combination carried a high risk: a 14-fold elevation for men and 16-fold for women. These risks apply to risk at ages older than 64 years and to a shift in onset to ages younger than 65 years.

Age of Onset↗
PubMed2000

A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease.

OBJECTIVE: To investigate whether or not a coding polymorphism in the cystatin C gene (CST3) contributes risk for AD. DESIGN: A case-control genetic association study of a Caucasian dataset of 309 clinic- and community-based cases and 134 community-based controls. RESULTS: The authors find a signficant interaction between the GG genotype of CST3 and age/age of onset on risk for AD, such that in the over-80 age group the GG genotype contributes two-fold increased risk for the disease. The authors also see a trend toward interaction between APOE epsilon4-carrying genotype and age/age of onset in this dataset, but in the case of APOE the risk decreases with age. Analysis of only the community-based cases versus controls reveals a significant three-way interaction between APOE, CST3 and age/age of onset. CONCLUSION: The reduced or absent risk for AD conferred by APOE in older populations has been well reported in the literature, prompting the suggestion that additional genetic risk factors confer risk for later-onset AD. In the author's dataset the opposite effects of APOE and CST3 genotype on risk for AD with increasing age suggest that CST3 is one of the risk factors for later-onset AD. Although the functional significance of this coding polymorphism has not yet been reported, several hypotheses can be proposed as to how variation in an amyloidogenic cysteine protease inhibitor may have pathologic consequences for AD.

Aged↗
PubMed2001

Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease.

Associations between polymorphisms of the cystatin C gene (CST3) at 5' flanking region and exon 1 in Caucasian patients with late onset AD and exon 1 in a US study of late onset AD have been reported. Clinically diagnosed Japanese patients with AD and Japanese normal control subjects were assessed for the presence of polymorphisms of CST3. The authors could not confirm the previously reported association between CST3 polymorphisms and AD in Japan. Age had no effect on the CST3 genotype.

Aged↗
PubMed2001

Improved immunoturbidimetric assay for cystatin C.

An immunoturbidimetric assay for cystatin C was optimized with respect to assay imprecision. After investigating the optimum pH, polyethylene glycol concentration and specimen volume, two modifications were introduced: an increase in specimen volume to 25 microL; and an extension of the pre-incubation period to 240 s. These modifications produced an assay with between-batch imprecision (coefficient of variation, n = 10 or 11) ranging from 3-9% at 0.72 mg/L to 1.3% at 5.29 mg/L. The assay was susceptible to interference from lipaemia and haemolysis but not bilirubinaemia in both the original and modified protocol. Extending the pre-incubation to 240 s improved tolerance to common interferences and retained assay applicability in the routine clinical setting.

Acid-Base Equilibrium↗
PubMed2002

Serum concentration of cystatin C is not affected by cellular proliferation in patients with proliferative haematological disorders.

BACKGROUND: Recent reports have shown elevated concentrations of serum cystatin C (CC) in patients with solid tumours. The aim of our study was to investigate whether patients with proliferative haematological disorders have increased serum concentrations of CC compared with normal subjects. METHODS: Full blood count, serum CC, beta2-microglobulin (beta2M) and serum creatinine were determined in 27 apparently healthy subjects and 35 patients with proliferative haematological disorders. Creatinine clearance was calculated using the Cockroft-Gault formula. RESULTS: CC and beta2M showed a significant correlation with each other (r=0.96, P<0.0001). Serum beta2M (P=0.001) and the serum beta2M:CC ratio (P=0.001) were significantly higher in the patients with normal renal function than in controls, but serum CC was not significantly different (P=0.08). CC did not show a significant correlation with blood count parameters. DISCUSSION: Compared with beta2M and the beta2M:CC ratio, serum CC is not influenced by cell proliferation in haematological disorders.

Cell Division↗
PubMed2003

Serum cystatin C level is a marker of end-organ damage in patients with essential hypertension.

High urinary albumin excretion rate (AER) has been associated with the presence of atherosclerotic vascular damages and is an independent risk factor for all causes of death and cardiovascular morbidity and mortality in essential hypertensive patients. Serum cystatin C (s-CC) is a recently identified nonglycosylated 13-kD basic protein that has been suggested to be a useful marker of glomerular filtration rate. In the present study, we investigated the relationship between s-CC level and end-organ damages in the kidney, heart, and vessels of patients with essential hypertension. Sixty patients with essential hypertension participated in the present study. Patients with renal failure were excluded. Serum-CC level was measured by a particle-enhanced turbidimetric assay. Left ventricular mass index (LVMI) and intima media thickness (IMT) in the common carotid arteries were evaluated by ultrasound images. Twenty-four-hour blood pressure was measured by a cuff-oscillometric method. Serum-CC level was negatively correlated with creatinine clearance (r=-0.617, p<0.0001). It was also correlated with mean 24-h systolic blood pressure (24h-SBP) (r=0.308, p= 0.0167), LVMI (r=0.528, p<0.0001), and IMT (r=0.539, p<0.0001). Both AER and s-CC level were independently associated with mean 24h-SBP. AER but not s-CC level was associated with HDL-cholesterol. The present study was the first to demonstrate that s-CC level is a useful and convenient parameter of renal function, and may also prove to be an early marker of the severity of end-organ damage in patients with essential hypertension.

Aged↗
PubMed2006

Contribution of the MDRD equation and of cystatin C for renal function estimates in cancer patients.

BACKGROUND: Serum creatinine (SCr) and Cockcroft-Gault creatinine clearance (CG CrCL) are used to estimate glomerular filtration rate (GFR). Other markers have been proposed including serum cystatin C (cysC) and the Modification of Diet in Renal Disease (MDRD) study equation. PATIENTS AND METHODS: We have compared the diagnostic performances of SCr, cysC, CG CrCL, and the MDRD equation in 144 cancer patients. For reference we used either the measured or the predicted carboplatin clearance, which is around the GFR + 25 mL/min. RESULTS: CysC was more sensitive than SCr (70.1% vs 13.4%) but was not very specific (61% for a cut-off = 0.95 mL). CysC values were higher in 40 cancer patients vs 40 healthy controls with a similar and normal mean CG CrCL (1.08 vs 0.71 mg/L; p < 0.001). CG and the MDRD equations gave similar values for Pearson's coefficient, ROC-plot AUC, and precision, except for patients with poor general status, where the MDRD equation was better (MAPE: 12.4% vs 19.6%, p < 0.001; R: 0.908 vs 0.813). CONCLUSIONS: In cancer patients, cysC is a more sensitive indicator of the glomerular filtration rate than SCr, but its diagnostic performance is lower than for CG CrCL. There may be no advantage in replacing the CG equation by the MDRD equation except for patients with severe malnutrition and/or inflammation.

Adult↗
PubMed2005

The efficacy of cystatin C assay in the prediction of glomerular filtration rate. Is it a more reliable marker for renal failure?

We determined the sensitivity, specificity, receiver operating characteristics and correlation between cystatin C (cysC) and two widely used markers of renal function, creatinine clearance and serum creatinine, in 244 patients (84 diabetics, 84 hypertensive and 76 healthy subjects). Renal failure was defined as creatinine clearance of less than either 80 or 60 mL/min. Variables were evaluated for two definitions of renal failure and compared between patient groups. Correlation coefficients with cysC were -0.87 for creatinine clearance and 0.92 for creatinine in patients with hypertension; -0.90 for creatinine clearance and 0.97 for creatinine in diabetics; and -0.61 for creatinine clearance and 0.94 for creatinine in the control group. The receiver operating characteristic curves with a cut-off value of 60 mL/min were similar for creatinine and cysC, while at 80 mL/min they were 0.626 for creatinine and 0.813 for cysC levels. We classified the patients into three groups with respect to creatinine clearance (1, >80 mL/min; 2, 60-80 mL/min; 3, <60 mL/min). Mean creatinine (p<0.0001) and cysC (p<0.0001) levels were significantly different between all the groups. Sensitivity, specificity and predictive values were higher for cysC levels, particularly in diabetics and hypertensive patients. The current study suggests that cysC is preferable for detecting temporal changes in renal function in the early stages of renal insufficiency.

Adult↗
PubMedDate not supplied

Induction of synthesis of the rat cystatin S protein by the submandibular gland during the acute phase of experimental Chagas disease.

Rats experimentally infected with Trypanosoma cruzi Y strain exhibited hypertrophy of the submandibular gland at 18 days after infection. SDS-PAGE of infected rats saliva revealed the presence of an additional band with an apparent molecular weight of about 13KDa. Electrophoresis of protein saliva and immunochemical analysis with antibody against rat cystatin S confirmed that the protein was identical to that induced by beta adrenergic stimulation.

Animals↗
PubMed2005

Cystatin C and subclinical brain infarction.

Subclinical brain infarcts (SBI) are common in the elderly and are associated with covert neurologic and cognitive impairment. Although renal impairment is associated with accelerated cerebrovascular disease and an increased risk for clinically apparent brain infarct, few studies have examined the relationship between renal function and SBI, and these may have been limited by the inaccuracy of creatinine as a renal function marker. A cross-sectional study was performed among older adults in the Cardiovascular Health Study to examine associations between SBI and two serum markers of renal function: Serum creatinine (SCr) and cystatin C (CysC). Patients had cranial magnetic resonance imaging and renal markers measured in 1992 to 1993. Logistic regression was used to estimate the associations between renal function (estimated by 1/SCr and 1/CysC) and SBI, controlling for potential confounding factors. SBI were present in 789 (28.7%) of 2784 participants. A linear association with SBI was observed for 1/CysC (per 1-SD decrement; odds ratio [OR] 1.20; 95% confidence interval [CI] 1.09 to 1.32; P < 0.001) but not for 1/SCr (OR 1.08; 95% CI 0.98 to 1.19; P = 0.14), for which a quadratic U-shaped association was suggested (P = 0.004). In a model with both markers, 1/CysC was linearly associated with SBI (OR 1.26; P < 0.001), whereas 1/SCr was not (OR 1.06; P = 0.3). The prevalence of SBI was directly associated with quintile of CysC, whereas the association between SCr and SBI was U-shaped, with greater prevalence at high and low levels. Compared with creatinine, CysC, a novel marker of renal function, has a stronger and more direct association with SBI in the elderly.

Age Factors↗
PubMed2005

Cystatin C as a new covariate to predict renal elimination of drugs: application to carboplatin.

BACKGROUND AND OBJECTIVE: The individual dosing of drugs that are mainly eliminated unchanged in the urine is made possible by assessing renal function. Most of the methods used are based on serum creatinine (SCr) levels. Cystatin C (CysC) has been proposed as an alternative endogenous marker of the glomerular filtration rate (GFR). Carboplatin is one of the drugs for which elimination is most dependent on the GFR. A prospective clinical trial including 45 patients was conducted to assess the value of serum CysC as a predictor of carboplatin clearance (CL). METHODS: The patients were receiving carboplatin as part of established protocols. Carboplatin was administered as a daily 60-minute infusion at doses ranging from 290 to 1700mg. A population pharmacokinetic analysis was performed using the nonlinear mixed effect modelling NONMEM program according to a two-compartment pharmacokinetic model. RESULTS: Data from 30 patients were used to test the relationships between carboplatin CL and morphological, biological and demographic covariates previously proposed for prediction of the GFR. The interindividual variability of carboplatin CL decreased from 31% (no covariate) to 14% by taking into account five covariates (SCr, CysC, bodyweight [BW], age and sex). Prospective evaluation of these relationships using the data from the other 15 patients confirmed that the best equation to predict carboplatin CL was based on these five covariates, with a mean absolute percentage error of 13% as an assessment of precision. NONMEM analysis of the whole dataset (n = 45 patients) was performed. The best covariate equation corresponding to the overall analysis was: CL (mL/min) = 110 x (SCr/75)-0.512 x (CysC/1.0)-0.327 x (BW/65)0.474 x (age/56)-0.387 x 0.854sex, with SCr in micromol/L, CysC in mg/L, BW in kilograms, age in years and sex = 0 if male and 1 if female. To put the value of CysC as an endogenous marker of the GFR into perspective, covariate equations without SCr were also evaluated; a better prediction was obtained by considering CysC together with age and BW (interindividual variability of 16.6% vs 23.3% for CysC alone). CONCLUSION: CysC is a marker of drug elimination that is at least as good as SCr for predicting carboplatin CL. The model based on five covariates was superior to those based on only four covariates (with BW, age and sex combined with either SCr or CysC), indicating that CysC and SCr are not completely redundant to each other. Further pharmacokinetic evaluation is needed to determine whether SCr or CysC is the better marker of renal elimination of other drugs.

Adult↗
PubMed2006

Variable expression of cystatin C in cultured trans-differentiating rat hepatic stellate cells.

AIM: To study the expression of cystatin C (CysC), its regulation by transforming growth factor-beta1 (TGF-beta1) and platelet-derived growth factor (PDGF) and the potential interference of CysC with TGF-beta1 signaling in this special cell type. METHODS: We evaluated the CysC expression in cultured, profibrogenic hepatic stellate cells and trans-differentiated myofibroblasts by Northern and Western blotting and confocal laser scanning microscopy. RESULTS: CysC was increased significantly in the course of trans-differentiation. Both TGF-beta1 and PDGF-BB suppressed CysC expression. Furthermore, CysC secretion was induced by the treatment with TGF-beta1. Although CysC induced an increased binding affinity of TGF-beta receptor type III (beta-glycan) as assessed by chemical cross-linking with [125I]-TGF-beta1, it did not modulate TGF-beta1 signal transduction as shown by evaluating the Smad2/3 phosphorylation status and [CAGA]-MLP-luciferase reporter gene assay. Interestingly, the shedding of type III TGF-beta receptor beta-glycan was reduced in CysC-treated cells. Our data indicated that CysC expression was upregulated during trans-differentiation. CONCLUSION: Increased CysC levels in the serum of patients suffering from liver diseases are at least partially due to a higher expression in activated hepatic stellate cells. Furthermore, TGF-beta1 influences the secretion of CysC, highlighting a potentially important role of cysteine proteases in the progression of hepatic fibrogenesis.

Animals↗
PubMed2003

The protease inhibitor cystatin C is differentially expressed among dendritic cell populations, but does not control antigen presentation.

Dendritic cells (DC) undergo complex developmental changes during maturation. The MHC class II (MHC II) molecules of immature DC accumulate in intracellular compartments, but are expressed at high levels on the plasma membrane upon DC maturation. It has been proposed that the cysteine protease inhibitor cystatin C (CyC) plays a pivotal role in the control of this process by regulating the activity of cathepsin S, a protease involved in removal of the MHC II chaperone Ii, and hence in the formation of MHC II-peptide complexes. We show that CyC is differentially expressed by mouse DC populations. CD8(+) DC, but not CD4(+) or CD4(-)CD8(-) DC, synthesize CyC, which accumulates in MHC II(+)Lamp(+) compartments. However, Ii processing and MHC II peptide loading proceeded similarly in all three DC populations. We then analyzed MHC II localization and Ag presentation in CD8(+) DC, bone marrow-derived DC, and spleen-derived DC lines, from CyC-deficient mice. The absence of CyC did not affect the expression, the subcellular distribution, or the formation of peptide-loaded MHC II complexes in any of these DC types, nor the efficiency of presentation of exogenous Ags. Therefore, CyC is neither necessary nor sufficient to control MHC II expression and Ag presentation in DC. Our results also show that CyC expression can differ markedly between closely related cell types, suggesting the existence of hitherto unrecognized mechanisms of control of CyC expression.

Animals↗
PubMed2004

Estimation of glomerular filtration rate in obese patients with chronic renal impairment based on serum cystatin C levels.

BACKGROUND: Serum cystatin C (Scyst) has an obvious advantage in recognizing the initial stages of renal impairment. However, several recent studies suggest that Scyst may also be affected by some nonglomerular factors such as thyroid dysfunction, glucocorticoid administration or metabolic status of the diabetic patient. The aim of this study was to evaluate whether obesity could affect Scyst. PATIENTS AND METHODS: The study was performed in 33 patients (mean age 49.1 +/- 6.3 years) with chronic renal disease (Scr = 227 +/- 118 micromol/l) and BMI = 35.6 +/- 1.8 kg/m2, and in 78 patients (mean age 43.4 +/- 5.1 years) with chronic renal disease (Scr = 245 +/- 111 micromol/l) and BMI = 24.0 +/- 1.8 kg/m2. Glomerular filtration rate (GFR) was determined using renal inulin clearance (Cin) under conditions of stabilized plasma concentrations and water loading. Scyst was measured using immunonephelometry. For statistical evaluation, linear regression analysis and receiver-operating characteristic (ROC) curve analysis were used. RESULTS: A significant correlation (r = 0.956, p < 0.001) between l/Scyst and Cin was demonstrated in patients with BMI > or = 30 kg/m2 (Group A). Similarly, a significant correlation (r = 0.900, p < 0.001) between l/Scys and Cin was found in patients with BMI < 30 kg/m2 (Group B). There was no significant difference between the regression straight lines characterizing these relationships. ROC curve analysis (using a cut-off value for Cin = 30 ml/min/1.73 m2) did not show significant differences in AUC, sensitivity and specificity for Scyst between obese and nonobese patients. CONCLUSION: The results suggest that evaluation of GFR based on Scyst in obese patients need not differ from that in nonobese ones.

Adult↗
PubMed2004

Predicting the glomerular filtration rate from serum creatinine, serum cystatin C and the Cockcroft and Gault formula with regard to drug dosage adjustment.

OBJECTIVES: To compare the accuracy of the classification of the degree of decrease in glomerular filtration rate (GFR), measured exactly (as inulin clearance) on the basis of serum concentrations of creatinine (Scr), cystatin C (Scyst) and creatinine clearance predicted according to Cockcroft and Gault (CG), and to establish whether any of the above methods is more accurate than the other 2. SUBJECTS: The study was conducted in 126 patients (52 men, 74 women) aged 18 to 64 years with various chronic renal diseases (predominantly various forms of glomerulonephritis and tubulointerstitial nephritis). The study subjects were divided into 3 subgroups according to GFR levels. Subgroup A (n = 41) included individuals with GFR >50 ml/min/1.73 m2, subgroup B (n = 56) was made up by individuals with GFR of 20-50 ml/min/1.73 m2, while subgroup C (n = 29) comprised individuals with GFR <20 ml/min/1.73 m2. METHODS: GFR was determined on the basis of renal inulin clearance (Cin) under conditions of stable plasma levels and water loading. Each individual had his/her Scr, Scyst values measured and CG was calculated. Results were evaluated using discrimination analysis. RESULTS: Mean values and SD of the monitored markers in the subgroups were as follows. Subgroup A: Scr 102.4 (38.3) micromol/l, Scyst 1.46 (0.42) mg/l, CG 80.0 (19.2) ml/min/1.73 m2. Subgroup B: Scr 161.2 (45.6) micromol/l, Scyst 2.01 (0.55) mg/l, CG 46.1 (16.7) ml/min/1.73 m2. Subgroup C: Scr 314.9 (58.3) micromol/l, Scyst 3.41 (0.96) mg/l, CG 24.8 (7.6) ml/min/1.73 m2. The percent of correct classifications and the respective confidence intervals (95%) for the methods used were as follows. Subgroup A: Scr 79.3 (64.6, 94.0), Scyst 75.9 (60.3, 91.5), CG 86.2 (73.6, 98.8). Subgroup B: Scr 51.8 (35.5, 68.1), Scyst 57.1 (41.5, 72.7), CG 64.3 (48.6, 80.0). Subgroup C: Scr 90.2 (81.0, 99.2), Scyst 80.5 (68.1, 92.9), CG 87.8 (77.8, 97.8). The percent of correct classifications established on the basis of Scr, Scyst and CG in subgroup B is significantly lower than that of correct classifications in subgroups A and C (p < 0.05-0.001). The percent of correct classifications using Scr, Scyst and CG, estimated separately for each subgroup (A, B, C) does not differ significantly. CONCLUSIONS: The findings support the assumption that estimation of the decrease in GFR using Scr, Scyst and CG is, as regards their utilization in everyday practice, suitable for individuals with severely decreased GFR (<20 ml/min/1.73 m2) and for individuals with a decrease in GFR to levels >50 ml/min/173 m2. Estimation of the decrease in GFR using the above subgroups did not demonstrate significant differences among Scr, Scyst and CG. Using the above markers, estimation of the decrease in GFR is the least reliable with GFR values in the range of 20-50 ml/min/1.73 m2.

Adolescent↗
PubMed2002

Beta-trace protein, cystatin C, beta(2)-microglobulin, and creatinine compared for detecting impaired glomerular filtration rates in children.

BACKGROUND: Because of the limitations of serum creatinine as a marker of glomerular filtration rate (GFR) in children, we assessed the diagnostic accuracy of the novel marker beta-trace protein (BTP) in comparison with cystatin C (Cys-C), beta(2)-microglobulin (beta(2)-MG), and creatinine as conventional indicators of reduced GFR. METHODS: We obtained serum samples from 225 children (age range, 0.2-18 years) with various renal pathologies who were referred for nuclear medicine clearance investigations (technetium-diethylenetriamine pentaacetic acid or chromium-EDTA). We measured Cys-C, BTP (nephelometric tests; Dade Behring), beta(2)-MG (Tinaquant; Roche), and creatinine (enzymatic assay; Creatinine-PAP; Roche). RESULTS: Seventy-five children had reduced GFR (<90 mL x min(-1) x 1.73 m(-2)). One hundred fifty children (independent of gender and age) with values >90 mL x min(-1) x 1.73 m(-2) comprised the control group with gaussian distributions of BTP and Cys-C concentrations. The upper reference limits (97.5 percentile) were 1.01 mg/L for BTP and 1.20 mg/L for Cys-C. The correlations of nuclear medicine clearance with the reciprocals of BTP, Cys-C, and the Schwartz GFR estimate were significantly higher (r = 0.653, 0.765, and 0.706, respectively; P <0.05) than with the reciprocal of creatinine or beta(2)-MG (r = 0.500 and 0.557, respectively). ROC analysis showed a significantly higher diagnostic accuracy of BTP, Cys-C, and the GFR estimate for the detection of impaired GFR than serum creatinine (P <0.05). Compared to creatinine, BTP increased the diagnostic sensitivity by approximately 30%, but it was not more sensitive than Cys-C or the Schwartz GFR estimate. CONCLUSIONS: BTP is superior to serum creatinine and an alternative for Cys-C to detect mildly reduced GFR in children, but it is not better than the Schwartz GFR estimate.

Adolescent↗
PubMed2002

[From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene].

Progressive myoclonus epilepsy type 1 of Unverricht-Lundborg (EPM1) is a rare disorder, associated with mutations in the cystatin B (CSTB) gene. The most prevalent molecular abnormality is an expansion of a dodecamer repeat in the promoter region of the CSTB gene, but point mutations in the CSTB gene have also been found. DNA examination may be useful in discriminating EPM1 from juvenile myoclonic epilepsy, and from other types of progressive myoclonus epilepsy. An early diagnosis is important to optimise treatment and to provide an adequate prognosis and prediction of recurrence.

Cystatin B↗