Journal of the neurological sciences
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Case Reports
Progressive encephalomyelitis with rigidity and myoclonus preceding otherwise asymptomatic Hodgkin's lymphoma.
Stiff-person syndrome (SPS), a rare neuroimmunological disorder, is characterized by symmetrical rigidity and muscle stiffness, particularly of axial and proximal limb muscles. Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a variant of SPS which includes additional clinical features (e.g. sensory symptoms, brain stem signs and pathological CSF findings). ⋯ Here, we present a case of PERM associated with HL, with PERM preceding occurrence of lymphoma by more than seven months. Our observation has obvious implications for the management and, in particular, diagnostic evaluation of patients with PERM.
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m.3243A>G mutation in mitochondrial DNA is the most common pathogenic point mutation, causing a variety of phenotypes. To further elucidate its clinical characteristics, we recruited 47 Chinese families carrying m.3243A>G mutation and analyzed their symptoms, disease history, inheritance, and mitochondria-related complications. ⋯ In the probands, the mutation ratio in blood was threefold higher and the ratio in urine was twofold higher than those of their mothers. m.3243A>G mutation ratio in mothers' urine and in their probands' blood were weakly correlated. In conclusion, (a) stroke-like episode induced by m.3243A>G mutation may be the symptom predominantly found in older patients; (b) m.3243A>G mutation ratio correlates with the severity of the disease; (c) m.3243A>G mutation ratio in mothers' urine may correlate to the ratio in blood in their offspring.
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The progression of cognitive deterioration in patients with Alzheimer's disease (AD) is considerably variable. The ability to predict the progression rate is important for clinicians to treat and manage patients with AD. We examined the possible relationship between the rate of cognitive deterioration and regional cerebral blood flow (rCBF) patterns in patients with AD. ⋯ Our longitudinal SPECT study suggests a significant association between rCBF deficits in the parietotemporal, posterior cingulate, and frontal regions and subsequent rapid cognitive and rCBF deterioration.
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Case Reports
Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS?
We first report sisters presenting with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)-like features, i.e., mild and reversible neurological manifestations, and MRI finding of a reversible lesion with transiently reduced diffusion in the corpus callosum associated with symmetrical white matter. The distributions of the white matter lesions (more extensive) and Na levels (normal) were different from those reported for sporadic MERS patients (subcortical white matter close to the central sulci, and hyponatremia), which suggested that the pathophysiology of the sisters with MERS-like features might be different from that of sporadic MERS. Some genetic factors might be involved in MERS, especially in some patients with extensive white matter lesions.
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Perry syndrome is characterized clinically by autosomal dominantly inherited, rapidly progressive parkinsonism, depression, weight loss and hypoventilation. In the seven families reported previously and the two new families presented herein (the Hawaii family and the Fukuoka-4 Japanese family), the mean disease onset age is 48 years (range: 35-61) and the mean disease duration five years (range: 2-10). Histology and immunohistochemistry show severe neuronal loss in the substantia nigra and locus coeruleus, with TDP-43-positive pathology in neurons (intranuclear and cytoplasmic inclusions, dystrophic neurites, axonal spheroids) and glial cells (glial cytoplasmic inclusions). ⋯ DCTN1 encodes p150(glued), the major subunit of the dynactin protein complex, which plays a crucial role in retrograde axonal and cytoplasmic transport of various cargoes. Evidence suggests the Perry mutations alter the binding of p150(glued) to microtubules. Further studies will examine reasons for the vulnerability of selected neuronal populations in Perry syndrome, and the link between the genetic defect and TDP-43 pathology.