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Charcot-Marie-Tooth disease type 1A (CMT1A) is the more frequent cause of demyelinating CMT, and CMT2A is the most common cause of axonal CMT. We conducted a magnetic resonance imaging (MRI) study on 39 CMT1A and 21 CMT2A patients to compare their neuroimaging patterns and correlate with clinical features. CMT1A patients showed selective fatty infiltration with a preference for anterior and lateral compartment muscles, whereas CMT2A patients showed a preference for superficial posterior compartment muscles. Early-onset CMT2A patients showed more severe leg fatty atrophy than late-onset CMT2A patients. In late-onset CMT2A, soleus muscle was the earliest, and most severely affected than the other leg muscles. Selective involvement of intrinsic foot muscles is a characteristic pattern of minimal CMT1A and CMT2A. Our MRI study demonstrates different patterns of fatty infiltration involving superficial posterior compartment muscles in CMT2A (partial T-type), and peroneal nerve innervated muscles in CMT1A (P-type).

Introduction: Hyperhomocysteinemia is an independent risk factor for cerebrovascular disease and the homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene can induce hyperhomocysteinemia. However, the association between this 677TT genotype and ischemic stroke still remains controversial. Therefore, we carried out this study to determine whether the MTHFR TT genotype is associated with certain subtypes of ischemic stroke., Materials and Methods: We enrolled 195 ischemic stroke patients and 198 healthy individuals and checked their fasting plasma homocysteine levels and analyzed the C677T polymorphism in the MTHFR gene., Results: Our findings concur with previous reports that stroke occurrence is associated with hyperhomocysteinemia, but not with the 677TT genotype. However, when we re-analyzed the data based on a subtype classification, the adjusted odds ratio (AOR) and 95% confidence intervals (CI) of the 677TT genotype were found to be significantly higher in patients with small-artery occlusion than that in controls (AOR, 2.92; 95% CI, 1.01-8.48). Moreover, the AOR of the 677TT genotype was found to be much bigger in patients with multiple small-artery occlusions (AOR, 6.90; 95% CI, 1.70-27.99), but not in those with single small-artery occlusion (AOR, 1.19; 95% CI, 0.27-5.35)., Conclusions: The homozygous C677T mutation in the MTHFR gene is associated with multiple small-artery occlusions, but not with single small-artery occlusion. Our findings suggest a genetic basis for certain subtypes of ischemic stroke.

A case of diffuse cerebrospinal gliomatosis with extensive leptomeningeal spread is presented. The patient, an 18-year-old girl, was admitted due to progressive weakness and paresthesia of both legs, following rapid neuropsychiatric deterioration. An initial magnetic resonance imaging (MRI) study of the T-spine showed diffuse high signal intensities from T9 to T12 spinal cords on a T2 sagittal image and diffuse cord bulging at T1WI. This suggested an inflammatory lesion such as tuberculosis or fungal meningoencephalitis. A limited autopsy was performed. A microscopic examination revealed multifocal GFAP-positive astrocytic proliferations that were low grade astrocytoma in the cerebral leptomeninges, parietal, occipital and temporal lobes and anaplastic astrocytoma in the spinal cord and spinal leptomeninges. The high proliferative indices of the spinal lesion and aneuploidy correspond to a diagnosis of malignant astrocytoma and a rapid fatal clinical course.

Congenital muscle fiber type disproportion (CFTD) has been described as a form of congenital myopathy characterized by the smallness and marked predominance of type 1 fibers in a muscle biopsy. Clinical manifestations include hypotonia, nonprogressive muscle weakness, joint contractures, and skeletal deformities. However, it has also been noted that the same pathologic alterations appeared in clinically diverse conditions. Recently, we experienced a family, a mother and two children, in which a muscle biopsy showed the mother to have muscle fiber type disproportion. This case was unusual in that there was a significant progression of weakness, an absence of neonatal hypotonia, and other commonly associated musculo-skeletal deformities. In this report, we describe the clinicopathologic features of the family with a brief review about muscle fiber type disproportion.

The Lambert-Eaton myasthenic syndrome (LEMS) heralds the occurrence of malignancy, especially small-cell lung cancer (SCLC), but it can also occur in the absence of cancer. Twelve patients were diagnosed as LEMS by clinical features and the classical electrophysiological triad, which includes a low amplitude of compound muscle action potentials (CMAP), decremental responses on low-rate stimulation, and incremental responses on high-rate stimulation on the repetitive nerve stimulation (RNS) test. There were 6 male and 6 female patients, ranging in age from 49 to 66 years. Malignancy(all were SCLC) was found in 7 patients. Males predominantly expressed the paraneoplastic form; whereas the primary autoimmune form was found only in women, who showed a good response to corticosteroid treatment. The neurological features were similar in both groups: proximal lower limb weakness, depressed muscle stretch reflexes, and dryness of mouth in nearly all patients. Bulbar dysfunction and limb paresthesia were a little more frequent in the paraneoplastic form. In RNS tests, the characteristic electrophysiological abnormalities were found in all patients and were more profound in the paraneoplastic form. We concluded that LEMS is commonly associated with malignancy, especially SCLC, but it should also be stressed that there are many female LEMS patients who do not harbor any malignancy at all, and that other treatment strategies such as immunotherapy should be considered for these patients.

Autonomic dysfunction commonly occurs in Parkinson's disease, but the pathogenesis of autonomic dysregulation remains uncertain. Autonomic functions regulating the cardiovascular system have been investigated in Parkinson's disease, but those involving the extremities has not been well demonstrated. To compare autonomic dysfunctions of the cardiovascular system with those of the extremities, we performed sympathetic skin response (SSR) and cardiovascular autonomic function tests (CAFT)-30 : 15 ratio, E : I ratio, Valsalva ratio, isometric exercise test (IET)--in 37 patients with Parkinson's disease and 33 age- and sex-matched healthy controls. The patients were asked to stop antiparkinsonian medications for at least 12 hours prior to the tests. SSR was measured at the right hand and foot after electrical stimulation of the right median and posterior tibial nerves. Absent SSR at either one or both extremities and CAFT beyond normal ranges were regarded as abnormal. Abnormal SSR was observed in 59% of patients, while abnormal CAFT were found in the range of 32%-81%. Patients with abnormal SSR showed more frequent and severe CAFT abnormalities than did patients with normal SSR. Among the CAFT, IET was well correlated with the SSR. The results suggest that parkinsonian sympathetic dysfunction involving either the cardiovascular system or the extremities may have the same pathophysiology.

Glycolipid compositions of the human glioma cell line T98G were studied during each phase of the cell cycle to see if those cell surface molecules are concerned with cell proliferation. In vitro cultured non-synchronized T98G cells are composed of ceramidemonohexoside (CMH), ceramidedihexoside (CDH), ceramidetrihexoside (CTH) and neolactotetraosylceramide (nLc4Cer) as neutral glycolipids, and of sulfatide (CS), gangliosides GM3, GM2, GD1a and several other gangliosides as acidic ones. While total glycolipid content per cellular weight was shown to be increased during the M phase, deletion of complex gangliosides particularly b-series gangliosides was recognized (p < 0.05). The glycolipid profile in other phases was fairly consistent, and there was no glycolipid molecule specific to a certain phase of the cell cycle. Relative enhancement of simple gangliosides with a decrease of complex ones during mitotic division may imply the functional involvement of complex gangliosides in cell-cell or cell-matrix attachment, which may have to be abandoned during the process of detachment from the matrix or cellular cleavage.