Evaluation of usefulness of a commercial agarose gel electrophoresis kit (QuickGel SP) for bovine serum protein electrophoresis.

The aim of this study was to show the usefulness of a commercial agarose gel electrophoresis (AGE) kit (QuickGel SP) for separating bovine serum protein fractions in comparison with conventional cellulose acetate electrophoresis (CAE). Serum protein bands were verified using five reference reagents corresponding to albumin and α1-, ß1-, ß2-, and γ-globulins. AGE clearly revealed six separated fractions of albumin and α1-, α2-, ß1-, ß2-, and γ-globulin fractions in 100% and 77.8% in serum samples of dairy cows from the healthy (n=27) and diseased groups (n=27), respectively. The α1- and α2-globulins were not separated by CAE in 14.8% and 96.3% of the samples from the healthy and diseased groups, respectively, whereas ß2- and γ-globulin were not separated by CAE in 96.3% and 100% of the samples from the healthy and diseased groups, respectively. More than 94% of the points for the α-globulin fractions (α1- and α2-globulins), the ß-γ-globulin fractions (ß1-, ß2-, and γ-globulins), and the albumin/globulin ratio between AGE and CAE were within agreement on the Bland-Altman plots. However, the mean biases were not near zero in the albumin and ß-γ-globulin fractions. These results suggest that the high-resolution commercial AGE kit can be utilized to separate bovine serum protein fractions.

[Symptomatic adrenoleukodystrophy heterozygote with fluctuated neurological symptoms--a case report].

We report a patient with symptomatic adrenoleukodystrophy (ALD) heterozygote, a 57-year-old female, who manifested fluctuated neurological symptoms. She is a mother of the patient with adrenoleukomyeloneuropathy associated with hypoparathyroidism and cerebral calcification. The heterozygote of ALD was diagnosed by elevated levels of very long chain fatty acids in her plasma and erythrocyte membranes. At age 51, she had a disturbance of consciousness, which subsided two months later. Neurologically, bilateral pyramidal tract signs were noted. CT revealed low-density areas in the white matter neighboring the bilateral anterior horns of lateral ventricles and small calcification in the basal ganglia. Four years later, her neurological manifestations including gait disturbance and mental deterioration subacutely progressed. MRI (T2-weighted image) showed diffuse high intensity areas in the cerebral white matter. Adrenal insufficiency, hypoparathyroidism and peripheral neuropathy were not detected. It has been reported that some ALD heterozygotes developed neurological symptoms, which resembled those of the patients with adrenomyeloneuropathy. The presented patient manifested neurological symptoms with fluctuation, which was not common clinical course in the heterozygotes of ALD. On the differential diagnosis of neurological diseases such as multiple sclerosis, cerebrovascular disease or other cerebral white matter diseases, it is important to consider the possibility of ALD heterozygotes.

[A case of cerebrotendinous xanthomatosis with convulsive seizures].

A 35 year-old male was admitted to our hospital because of convulsive seizures. His parents are first cousins. No other members of his family have similar symptoms. He showed mental retardation since childhood. At age 14, he had generalized convulsive seizures that were intractable. Bilateral cataracts were found and extracted at age 18. He noticed bilateral swellings at Achilles tendons at around 25 years of age. Physical examination revealed bilateral swellings of Achilles tendons. Neurologically, he showed poor intellectual ability, hyperreflexia with positive Babinski's sign and cerebellar ataxia. Marked elevations of cholestanol level (53.84 micrograms/ml; normal: 2.71 +/- 0.81, n = 17) and cholestanol/cholesterol ratio (2.20%; normal: 0.16 +/- 0.05, n = 17) were detected in serum. EEG showed abnormal background activities with bursts of high voltage slow theta activities. MRI study showed high intensity lesions in globus pallidus and multiple lesions in white matter with long spin echo sequence. Oral administration of chenodeoxycholic acid improved EEG findings, serum cholestanol level and convulsive seizures. However, the MRI abnormalities remained unchanged, which suggested irreversible brain damage. We reviewed the previous reports of 144 cases of CTX. Fourteen cases had convulsive seizures. We stress that CTX is one the causes of symptomatic epilepsy.