Biomedical subjects

H Kondo

Publications and source records attributed to H Kondo.

At least 55 records · Page 3Linked to original sources

PubMed2001

Clinicopathologic and familial characteristics of endometrial carcinoma with multiple primary carcinomas in relation to the loss of protein expression of MSH2 and MLH1.

BACKGROUND: The frequency of synchronous or metachronous multiple primary carcinomas in patients with endometrial carcinoma has been reported to be between 10% and 23% and is highest among all gynecologic carcinomas. However, clinical characteristics and underlying genetic abnormalities in endometrial carcinoma with multiple primary carcinomas has not been well clarified. Endometrial carcinoma is the most commonly associated extracolonic malignancy in hereditary nonpolyposis colorectal carcinoma in which germ line mutations in DNA mismatch repair genes, particularly in MSH2 and MLH1, are known to cause this syndrome. The purpose of the current study was to investigate clinicopathologic and familial characteristics including MSH2, MLH1, and p53 expression in endometrial carcinoma with multiple primary carcinomas, by comparing them to endometrial carcinoma without other primary malignancies. METHODS: Patients were divided into two groups: 30 patients with synchronous or metachronous multiple primary carcinomas other than endometrial carcinoma and 116 patients with endometrial carcinoma without other primary malignancies. Clinicopathologic characteristics, family history of cancer, and immunohistochemical protein expression of MSH2, MLH1, and p53 expression were investigated in both groups, and 15 endometria from benign disease were used for normal controls in immunohistochemistry. RESULTS: The frequency of high risk clinicopathologic factors of endometrial carcinoma and 5-year survival rates and the frequency of p53 overexpression were not statistically different between the two groups. However, the loss of MSH2 and/or MLH1 expression was significant in endometrial carcinoma with multiple primary carcinomas, when compared with endometrial carcinoma alone (22 of 30 vs. 31 of 116). In cases with multiple primary carcinomas, particularly those diagnosed before the patient was 55 years of age or those in which the patient had a family history of cancer, the frequency of this loss was especially high (11 of 13 and 10 of 11, respectively). CONCLUSIONS: The clinical or biologic nature of endometrial carcinoma with multiple primary carcinomas seems to be similar to endometrial carcinoma alone. A high incidence of defective MSH2 and MLH1 protein in endometrial carcinoma with multiple primary carcinomas, however, suggests that abnormalities in the function of MSH2 and MLH1 may play an important role in tumorigenesis for patients with endometrial carcinoma with multiple primary carcinomas and their families.

Adaptor Proteins, Signal Transducing↗

PubMed2001

Immunohistochemical localization of neprilysin in the human cerebral cortex: inverse association with vulnerability to amyloid beta-protein (Abeta) deposition.

We investigated the immunohistochemical localization of neprilysin, a putative amyloid beta-protein (Abeta)-degrading enzyme, in postmortem human brain tissues. In the cerebral cortex, neprilysin immunoreactivity was weak, but relatively dense distribution was found in the primary somatosensory and visual cortices compared with the hippocampus and association cortices. In Alzheimer brain, neprilysin-positive dystrophic neurites occurred in senile plaques in the primary cortices, an observation that supports the relative abundance of neprilysin-positive neuronal processes. A paucity of neprilysin in the hippocampus and association cortices may contribute to the vulnerability of these areas to Abeta deposition.

Alzheimer Disease↗

PubMed2001

Structural evidence for entropic contribution of salt bridge formation to a protein antigen-antibody interaction: the case of hen lysozyme-HyHEL-10 Fv complex.

A structural and thermodynamic study of the entropic contribution of salt bridge formation to the interaction between hen egg white lysozyme (HEL) and the variable domain fragment (Fv) of anti-HEL antibody, HyHEL-10, was carried out. Three Fv mutants (HD32A, HD96A, and HD32AD96A) were prepared, and the interactions between the mutant Fvs and HEL were investigated. Crystallography revealed that the overall structures of these mutant complexes were almost identical to that of wild-type Fv. Little structural changes were observed in the HD32AD96A mutant-HEL complex, and two water molecules were introduced into the mutation site, indicating that the two water molecules structurally compensated for the complete removal of the salt bridges. This result suggests that the entropic contribution of the salt bridge originates from dehydration. In the singly mutated complexes, one water molecule was also introduced into the mutated site, bridging the antigen-antibody interface. However, a local structural difference was observed in the HD32A Fv-HEL complex, and conformational changes occurred due to changes in the relative orientation of the heavy chain to the light chain upon complexation in HD96A Fv-HEL complexes. The reduced affinity of these single mutants for the antigen originates from the increase in entropy loss, indicating that these structural changes also introduced an increase in entropy loss. These results suggest that salt bridge formation makes an entropic contribution to the protein antigen-antibody interaction through reduction of entropy loss due to dehydration and structural changes.

Antigen-Antibody Complex↗

PubMed2001

Induction of mitochondrial heat shock protein 60 and 10 mRNAs following transient focal cerebral ischemia in the rat.

Heat shock proteins (HSPs) 60 and 10 are stress-inducible mitochondrial matrix proteins that form a chaperonin complex that is important for mitochondrial protein folding and function. The effect of cerebral ischemia on mitochondrial HSPs is unclear. The topographical and chronological patterns of HSP60 and HSP10 messenger ribonucleic acid (mRNA) expression and induction were investigated in the rat focal cerebral ischemia model. Focal cerebral ischemia was produced by transient middle cerebral artery occlusion for 30 or 90 min. Expression of mRNAs was analyzed using reverse transcription-polymerase chain reaction (RT-PCR) and in situ hybridization. RT-PCR analysis showed that both HSP60 and HSP10 mRNA levels increased significantly in the ischemic cortex from 4 to 24 h of reperfusion after 30 min of occlusion. In situ hybridization analysis demonstrated significant induction of both mRNAs in the whole ischemic cortex after 30 min of occlusion and in the dorsomedial border (penumbra) of the ischemic cortex and ipsilateral hippocampus after 90 min of occlusion. Expression patterns and the timing of the induction of both HSP60 and HSP10 mRNAs were identical throughout the experiments. Simultaneous induction of the mRNAs for the mitochondrial chaperonins, HSP60 and HSP10, in various regions in focal cerebral ischemia demonstrates that mitochondrial stress conditions persist concomitantly with cytosolic stress conditions in focal cerebral ischemia.

Animals↗

PubMed2001

Localization of mRNAs for six ARFs (ADP-ribosylation factors) in the brain of developing and adult rats and changes in the expression in the hypoglossal nucleus after its axotomy.

ADP-ribosylation factors (ARFs) play crucial roles in the intracellular vesicular transport and in regulation of phospholipid-modifying enzyme activities and cytoskeletons. Using in situ hybridization histochemistry, the gene expression for six isoforms of ARF was examined during normal development of rats and in the hypoglossal nucleus following its axotomy. In the embryonic brain, the expression for ARF-1, -4, -5, -6 mRNAs was distinct in the ventricular germinal zone while that for ARF-3, -4, -5 in the mantle zone. In early postnatal brain, the expression for six ARFs was seen widely in various loci of the gray matter with different intensity, and the expression of ARF-4, -5, -6 mRNAs was evident in the cerebellar external granule cell layer. In the adult brain, the gene expression for all ARF isoforms decreased more or less in most gray matters and the distinct expression was maintained mainly in the hippocampal and dentate neuronal layers and cerebellar cortex. The expression levels of ARF-2 and -4 mRNAs in affected hypoglossal nucleus increased after 24 h up to 7 days following axotomy of the hypoglossal nerve, while no such changes were seen in the expression levels for the other ARFs. The present findings suggest that ARFs are differentially involved in some processes essential to nerve regeneration as well as neuronal differentiation and maturation.

ADP-Ribosylation Factor 1↗

PubMed2001

The novel sequences of major plasma apolipoproteins in the eel Anguilla japonica.

cDNAs encoding major plasma apolipoproteins (apo) were cloned from the eel Anguilla japonica liver and their nucleotide sequences determined. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis revealed that eel lipoproteins contain apolipoproteins of 28 kDa and 14 kDa as major components. Each of the two apolipoproteins showed two isoforms having different isoelectric points as demonstrated by two-dimensional electrophoresis. The two 28 kDa components had different N-terminal amino acid sequences, whereas the two 14 kDa components had an identical one. Then cDNA clones encoding these apolipoproteins were isolated from a cDNA library constructed from the eel liver. An acidic 28 kDa component (28 kDa-1) consisted of 259 amino acids including a putative signal peptide of 27 residues, whereas a basic 28 kDa component (28 kDa-2) was composed of 260 amino acids containing a putative signal peptide of 23 residues. The tandem repeating units, which are characteristic of apolipoproteins, for 28 kDa-1 showed 27.8% identity to that of porcine apoA-IV, although mammalian apoA-IV is about 40 kDa and much larger than 28 kDa-1. However, the repeating units of 28 kDa-2 showed 52.5% identity to that of Atlantic salmon apoA-I. The 14 kDa apolipoprotein consisted of 142 amino acids containing a putative signal peptide of 20 residues. It has a novel sequence differing from apolipoproteins of other vertebrates. The transcriptional expressions of 28 kDa-1, 28 kDa-2, and 14 kDa components were all restricted to the liver, except for the transcripts of 28 kDa-2 which were also slightly expressed in the intestine.

Amino Acid Sequence↗

PubMed2001

Increased expression of laminin-5 and its prognostic significance in lung adenocarcinomas of small size. An immunohistochemical analysis of 102 cases.

BACKGROUND: Laminin-5 plays an important role in cell migration during tissue remodeling and tumor invasion. METHODS: The authors studied the expression of laminin-5 immunohistochemically in 102 cases of small-sized lung adenocarcinoma (maximum dimension < or = 2 cm) using a monoclonal antibody against the laminin gamma2 chain, and they also investigated the associations of laminin-5 with clinicopathologic characteristics. Prognostic significance of increased laminin-5 expression was evaluated using the Kaplan-Meier method and the Cox proportional hazard model. RESULTS: Overall, laminin-5 expression was observed in 82 cases (80.4%): 7 of 18 (38.9%) bronchioloalveolar carcinomas and 75 of 84 (89.3%) invasive adenocarcinomas. Laminin-5 was preferentially localized in the cytoplasm of tumor cells at the tumor-stromal interface, where budding or dissociation of cancer cells was frequently observed. Overexpression of laminin-5 (24 cases, 23.5%) was associated with vascular invasion (P = 0.021) and stromal fibroblastic reaction (P = 0.005) but not with nodal involvement, lymphatic invasion, or pleural invasion. Survival analysis revealed that overexpression of laminin-5 was associated with shorter patient survival (P = 0.0027 by log rank test). On multivariate analysis, overexpression of laminin-5 was an independent prognostic factor (P = 0.030), as were nodal involvement (P < 0.0001), vascular invasion (P = 0.047), and lymphatic invasion (P = 0.0047) in a whole cohort of patients. Moreover, when patients with Stage I (International Union Against Cancer [UICC] staging system) disease were considered in multivariate analysis, overexpression of laminin-5 was the only significant prognostic factor (P = 0.022), whereas vascular invasion had a marginally significant impact (P = 0.07) on patient survival. CONCLUSIONS: The authors' results showed that laminin-5 is frequently expressed by cancer cells at the invasive front of lung adenocarcinoma. The study concluded that overexpression of laminin-5 may be a useful prognostic factor in patients with small-sized lung adenocarcinoma, especially in Stage I cases.

Adenocarcinoma↗

PubMed2001

Increased expression of cyclooxygenase-2 in human pancreatic neoplasms and potential for chemoprevention by cyclooxygenase inhibitors.

BACKGROUND: Cyclooxygenase-2 (COX-2) is thought to be linked to carcinogenesis; however, very little is known about its expression in pancreatic neoplasms. The authors studied the expression of COX-2 in human pancreatic neoplasms and investigated the effect of COX inhibitors on the growth of human pancreatic carcinoma cells. METHODS: Expression of COX-2 protein was immunohistochemically examined in 42 human pancreatic duct cell carcinomas (PDCs) and in 29 intraductal papillary mucinous tumors (IPMTs [adenomas, 19; carcinomas, 10]) of the pancreas that were resected surgically at the National Cancer Center Hospital in Tokyo. The growth of four human pancreatic carcinoma cell lines also was evaluated in the presence of COX inhibitors. RESULTS: Marked COX-2 expression was observed in 57% (24 of 42) of PDCs, in 58% (11 of 19) of adenomas, and in 70% (7 of 10) of adenocarcinomas of IPMTs. However, there was no correlation between COX-2 expression and clinicopathologic indices of the patients. All four pancreatic cancer cell lines expressed COX-2 protein weakly or strongly, and the inhibitory effect of aspirin on cell growth was correlated with the expression of COX-2. CONCLUSIONS: COX-2 was expressed in adenomas of IPMTs as well as in carcinomas and might have played a role in the development of pancreatic tumors. In this study, COX inhibitors, as nonsteroidal anti-inflammatory drugs, were shown to be possible preventive agents against pancreatic neoplasms.

Adenocarcinoma, Mucinous↗

PubMed2001

Abundant expression of uncoupling protein-2 in the small intestine: up-regulation by dietary fish oil and fibrates.

Mitochondrial uncoupling protein-2 (UCP-2) is widely expressed in various mammalian tissues, although its physiological functions are not well understood. We examined the effects of dietary fish oil on UCP-2 expression in the rat small intestine, in which UCP-2 mRNA levels are higher than in other organs. Feeding with fish oil (20%) up-regulated UCP-2 mRNA within 6 days in the small intestine as well as the liver, compared to feeding with soybean oil. This was mimicked by feeding with agonists for peroxisome proliferator-activated receptor alpha (PPARalpha) such as fenofibrate and bezafibrate, but not the PPARgamma agonist troglitazone. The bezafibrate-induced increase in UCP-2 expression was found within 2 days in the small intestine, but only after 6 days in the liver. The up-regulation of UCP-2 was also found in cultured intestinal epithelial cells (IEC-6) treated for 24 h with various long-chain fatty acids and PPARalpha agonists. These results indicated that intestinal UCP-2 is up-regulated through direct activation of PPARalpha by dietary fatty acids.

Animals↗

PubMed2001

Immunohistochemical localization of plasminogen activator inhibitor-1 in rat and human brain tissues.

We investigated immunohistochemically the localization of type 1 plasminogen activator inhibitor (PAI-1) in rat and human brain tissues. In rat, neurons and astrocytes were stained positively for PAI-1 after colchicine treatment. In post-mortem human brain, neurons were stained for PAI-1 but the number of positive neurons varied greatly from case to case. PAI-1 positive astrocytes occurred in the white matter lesions of some patients. In Alzheimer's disease, weak PAI-1 labeling was seen in association with senile plaques and ghost tangles. The present results support a notion that PAI-1 and its target proteases such as plasminogen activators and thrombin are involved in a variety of physiological and pathological processes in brain.

Aged↗

PubMed2001

NMR analysis of type III antifreeze protein intramolecular dimer. Structural basis for enhanced activity.

The structure of a new antifreeze protein (AFP) variant, RD3, from antarctic eel pout (Rhigophila dearborni) with enhanced activity has been determined for the first time by nuclear magnetic resonance spectroscopy. RD3 comprises a unique translational topology of two homologous type III AFP globular domains, each containing one flat, ice binding plane. The ice binding plane of the N domain is located approximately 3.5 A "behind" that of the C domain. The two ice binding planes are located laterally with an angle of 32 +/- 12 degrees between the planes. These results suggest that the C domain plane of RD3 binds first to the ice [1010] prism plane in the <0001> direction, which induces successive ice binding of the N domain in the <0101> direction. This manner of ice binding caused by the unique structural topology of RD3 is thought to be crucial for the significant enhancement of antifreeze activity, especially at low AFP concentrations.

Amino Acid Sequence↗

PubMed2001

Malignant hepatic tumor detection with ferumoxides-enhanced MR imaging with a 1.5-T system: comparison of four imaging pulse sequences.

The purpose of our study was to compare observer performance in the detection of malignant hepatic tumors with ferumoxides-enhanced magnetic resonance (MR) images obtained with proton density-weighted spin-echo (SE), T2-weighted fast SE, T2*-weighted gradient-recalled-echo (GRE), and proton density-weighted echo-planar (EP) sequences. Ferumoxides-enhanced MR images obtained with the four sequences in 50 patients with 92 solid malignant and 64 nonsolid benign lesions were retrospectively analyzed. Image review was conducted on a segment-by-segment basis; a total of 397 liver segments was reviewed separately for solid and nonsolid lesions by three independent readers. Observer performance was evaluated with receiver operating characteristic analysis. Lesion-to-liver contrast-to-noise ratio was higher with SE and EP than with GRE and fast SE images for solid lesions (P < 0.05), and higher with fast SE and SE than with GRE images for nonsolid lesions (P < 0.01). Proton density-weighted SE and T2-weighted fast-SE images were superior to T2*-weighted GRE and proton density-weighted EP images for detection of malignant hepatic tumors. T2-weighted fast SE images were the best for detection of nonsolid lesions. T2-weighted fast SE images that were comparable to proton density-weighted SE images for solid tumor detection, that were the best for nonsolid lesion detection, and that had an acquisition time of one third to half of that of SE imaging may be able to replace SE images for ferumoxides-enhanced liver imaging.

Aged↗

PubMed2001

Genetic origin of malignant trophoblastic neoplasms analyzed by sequence tag site polymorphic markers.

OBJECTIVE: To study the causative conception of malignant gestational trophoblastic neoplasms (GTNs), we analyzed malignant GTNs by microsatellite PCR markers. METHOD: DNAs extracted from 12 malignant GTNs were subjected to PCR for five different chromosomal locations. RESULT: Of the 7 cases after a complete mole (CM), 5 were derived from androgenesis, but the remaining 2 were from normal fertilization. Of the 5 cases after nonmolar pregnancies, 2 placental site trophoblastic tumors had alleles from both parents. Of the other 3 choriocarcinomas, 1 was from normal fertilization after spontaneous abortion but 2 originated from androgenesis, suggesting that 1 was from a CM prior to the antecedent abortion, transforming after a long interval. CONCLUSION: By combining the previous cases with these, our analysis of 39 cases demonstrated that trophoblastic neoplasms can arise from at least three different modes of origin (androgenesis, normal fertilization, and parthenogenesis), and antecedent pregnancy is not always identical to the causative conception. Placental site trophoblastic tumors might have different machinery for carcinogenesis because of the predominance of paternal and maternal contributions. In addition, a long dormancy of trophoblasts before malignant transformation, especially for those originating from normal fertilization, was also suggested.

Adult↗

PubMed2001

A novel selectin blocker alleviates oxidative stress of lung reperfusion injury.

BACKGROUND: The importance of reactive oxygen species released through interaction of leukocyte/endothelial cell in ischemia-reperfusion injury of the lung is not yet fully understood. A novel selectin blocker, OJ-R9188, which inhibits the interaction, may alleviate oxidative stress and pulmonary dysfunction after warm ischemia-reperfusion. MATERIALS AND METHODS: Rat lungs were reperfused at 37 degrees C for 60 min with an ex vivo model and were divided into three groups (n = 10). In the fresh group, lungs were reperfused immediately after harvest. In the OJ-R (-) and OJ-R (+) groups, lungs were reperfused after warm ischemia at 37 degrees C for 90 min. In the OJ-R (+) group, rats received 100 microg per body of OJ-R9188 intravenously 10 min before the harvest. The electron spin resonance method was used to assess the direct scavenging activity of OJ-R9188. RESULTS: Both shunt fractions and wet/dry weight ratios of the lung tissue after reperfusion in the OJ-R (+) group were significantly lower than those in the OJ-R (-) group. Oxidative DNA damage in the alveolar wall of the OJ-R (+) group, assessed by immunohistochemical quantitation of 8-hydroxy-2'-deoxyguanosine, was significantly lower than that of the OJ-R (-) group. Immunostaining of 3-nitro-l-tyrosine, which represents nitric oxide-mediated oxidative damage, was also more intense in the OJ-R (-) group than in the OJ-R (+) group. Direct scavenging activity of OJ-R9188 was not observed, and the number of leukocytes infiltrated to the lung tissue as seen by myeloperoxidase activity was not different between the OJ-R (-) and OJ-R (+) groups. CONCLUSIONS: A novel selectin blocker, OJ-R9188, improves pulmonary function after warm ischemia-reperfusion and alleviates reperfusion-induced oxidative alveolar damage.

Animals↗

PubMed2001

Risk factors for sudden unexpected death among workers: a nested case-control study in central Japan.

UNLABELLED: BACKGROUND; Few studies have focused on sudden death among apparently healthy workers, and the risk factors have not been fully discussed. METHODS: A nested case-control study was conducted among 164,017 male employees receiving annual medical checkups in Japan. Most recent medical checkup data of 242 sudden death victims (mean age, 48.0 years) were compared with corresponding data of 505 age-, workplace-, and job-type-matched male controls. Odds ratios (ORs) and their 95% confidence intervals (CIs) for each variable were calculated by logistic regression. RESULTS: OR (95% CI) significantly increased with advancing blood pressure, reaching 6.6 (3.4-13.1) for systolic blood pressure > or =160 mm Hg relative to that <120 mm Hg. Hypo-HDL-cholesterolemia, hyperuricemia, increased aminotransferases, and abnormal urinary findings were associated with the risk in a dose-dependent manner. The presence of arrhythmias and ST-T abnormalities as well as abnormal Q waves on electrocardiograms yielded a 3.5 to 4.8 times greater risk of sudden death. As for lifestyles, heavy smoking was a positive, and light drinking was a negative risk factor. Multivariate analysis revealed that hypertension, proteinuria, glucosuria, arrhythmias, ST-T abnormalities, and light drinking were independent predictors for sudden death. CONCLUSION: These findings suggest that periodic medical checkups can help to predict and prevent employee sudden death.

Blood Pressure↗

PubMed2001

Induction of IL-6 via the EP3 subtype of prostaglandin E receptor in rat adjuvant-arthritic synovial cells.

OBJECTIVE AND DESIGN: This study investigated the role of the prostaglandin E receptor EP3 subtype in the development of inflammatory synovitis. MATERIALS AND METHODS: We examined the EP3 mRNA expression in the synovial tissue of rats with adjuvant arthritis and the effect of selective EP agonists on IL-6 production by cultured rat synovial cells. RESULTS: Of the two rat EP3 isoforms, rEP3B mRNA but not rEP3A mRNA was expressed in rat synovial cells. RT-PCR and ELISA were used to analyze the effects of selective EP3 agonist (ONO-AE-248) on IL-6 production by rat cultured synovial cells. This selective EP3 agonist induced IL-6 production by rat synovial cells in a time- and dose-dependent manner. CONCLUSIONS: Our results suggest that PGE2 upregulates IL-6 production by synovial macrophages and fibroblasts through rEP3B in rats with adjuvant arthritis.

Animals↗

PubMed2001

Pressure changes observed in Codman-Medos programmable valves following magnetic exposure and filliping.

OBJECTS: We wished to find what pressure changes were caused in Codman-Medos programmable valve by magnetic exposure and filliping. This pressure-adjustable valve system was used in an experimental investigation of the changes measured in the pressure setting following MR exposure and other impulses. METHODS: In one experiment, two valves were affixed to a human model: one was installed in the right retroauricular region and the other at the anterior chest wall. The pressure was changed in 58 (80.6%) of 72 tests in the valve in the right retroauricular region and in 46 (63.9%) of 72 tests in the valve at the anterior chest wall. In some tests with the valve pressure originally set at 200 mmH2O striking changes to lower pressures were observed. In the other experiment, the changes of pressure settings in seven patients with a shunt system installed were checked before and after random filliping with the tip of an index finger 50 times. In all 7 patients, the pressures initially set were greatly changed, by up to 120 mmH2O of the maximum range. CONCLUSIONS: These results demonstrate that the pressure setting of the shunt system can be changed by various shocks, including magnetic impulses, and that the pressure level of the shunt system must be constantly monitored.

Cerebrospinal Fluid Pressure↗

PubMed2001

Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules.

We report a 48-year-old woman with familial spastic paraplegia (FSP) showing mental retardation, amyotrophy and sensory disturbance. Her parents were second cousins and there were two other affected siblings in the family. Autopsy revealed degenerative lesions characterized by neuronal loss and gliosis in the upper and lower motor neuron systems, thalamus, lateral geniculate body, dentate nucleus and posterior column of the spinal cord. The remaining neurons often contained ubiquitinated lipofuscin granules. Although the corpus callosum was severely attenuated, it exhibited well-preserved myelination and only minimal gliosis. In the substantia nigra, the number of pigmented neurons was apparently low, but there was slight gliosis and no extraneuronal free melanin pigment in the background. The neurons in this brain region contained much smaller amounts of melanin pigment than might be expected for the patient's age. These findings suggest that this is an example of a family with autosomal recessive FSP with thin corpus callosum, and that maldevelopment of the corpus callosum and substantia nigra is a characteristic feature of the disease.

Agenesis of Corpus Callosum↗