1/600. Multisystem neuronal involvement and sicca complex: broadening the spectrum of complications. We report two patients with multisystem neuronal involvement associated with sicca complex. One had a lower motor neuron syndrome combined with a flaccid bladder and rectum. The second patient had unilateral hearing loss, sensory neuronopathy, Adie's pupils, upper motor neuron signs, and autopsy-proven anterior horn cell degeneration. Our cases lead us to propose that the spectrum of neuronal involvement occurring with sicca syndrome may be wider than is currently appreciated. ( info) |
2/600. White matter hyperintensities on MRI in a patient with corticobasal degeneration. We describe a patient who presented with the clinicopathological features of corticobasal degeneration (CBD). Over the course of 8 years, the patient developed myoclonus, dystonia, and supranuclear gaze palsy associated with an akinetic-rigid syndrome. To our knowledge, no previous report of a patient with CBD has described clear-cut regional white matter changes as revealed by magnetic resonance imaging (MRI) scans. In our patient, a T2-weighted MR image of the brain showed focal atrophy of the bilateral frontal cortex and asymmetric regional hyperintensities of the subjacent white matter. These signal changes seemed to primarily reflect the progression of neuronal degeneration, especially the demyelination secondary to axonal loss or change. ( info) |
3/600. Immunoadsorption plasmapheresis in acute ataxic neuropathy. Acute ataxic neuropathy is characterized by sensory ataxia and areflexia. There is no established treatment. We tried immunoadsorption plasmapheresis 15 days after the onset for a 46-year-old woman suffering from this neuropathy. She could not walk even with assistance because of sensory ataxia. A sural nerve biopsy revealed active axonal degeneration and loss of myelinated fibers. We tried 5 sessions of plasmapheresis during 2 weeks. She could walk with assistance 12 days after the beginning of the plasmapheresis treatment. It took 3 months for her to be able to walk over 5 m without assistance, and she had severe sensory ataxia over a 17 month follow-up period. Immunoadsorption plasmapheresis started within 2 weeks after the onset of acute ataxic neuropathy may have beneficial effects if the axonal degeneration is mild. The plasmapheresis, however, should be continued for a longer period. A double blind study is necessary to clarify the effectiveness of this treatment on acute ataxic neuropathy. ( info) |
4/600. Axonal degeneration of peripheral facial nerve in a patient with progressive hemifacial atrophy. We report a case of a 23-year-old woman with progressive hemifacial atrophy. She showed an atrophic change on the left side of her face for 8 years. A skin biopsy obtained from the lesion revealed the fibrotic changes in the deep dermis and adipose tissue with infiltrations of lymphocytes and plasma cells. She underwent the augmentation using a deepithelialized anteromedial thigh flap with endoscopic assistance. A specimen of the peripheral facial nerve taken from the region adjacent to the skin lesion during the operation showed atrophy of neurofibers with vacuole degeneration. On an electron microscopic examination, a high degree of degeneration of myelinated and unmyelinated axons was observed. These findings may provide direct evidence that atrophic changes of nerve fibers are closely related with the pathology of this disease. ( info) |
| Two patients presenting with progressive dysarthria as the single initial manifestation of a neurodegenerative condition are described. The nature of the dysarthria as well as the additional symptoms that developed in the course of the disorder are very different in these two cases. Nevertheless, neuroimaging findings are strikingly similar and suggest bilateral involvement of posterior inferior frontal lobe structures, mainly in the dominant cerebral hemisphere. The clinical syndrome of these patients can therefore be considered an example of frontotemporal degeneration presenting without dementia or compartmental alteration, at least in the early stages. This broadens the clinical spectrum of frontotemporal degeneration and demonstrates the need for a syndromal subclassification of this nosological entity. ( info) |
6/600. A non-familial Huntington's disease patient with grumose degeneration in the dentate nucleus. We report a non-familial Huntington's disease (HD) patient presenting with increased levels of protein and IgG in his cerebrospinal fluid (CSF), antineuronal antibody in his serum and CSF, Purkinje cell and granule cell degeneration in the cerebellum, and grumose degeneration in the dentate nucleus, in addition to typical HD findings. This patient showed an expanded CAG repeat in the HD gene, and provides new information on the clinical and neuropathologic varieties of HD. ( info) |
| The tau gene has been found to be the locus of dementia with rigidity linked to chromosome 17. Exonic and intronic mutations have been described in a number of families. Here we describe a P301S mutation in exon 10 of the tau gene in a new family. Two members of this family were affected. One individual presented with frontotemporal dementia, whereas his son has corticobasal degeneration, demonstrating that the same primary gene defect in tau can lead to 2 distinct clinical phenotypes. Both individuals developed rapidly progressive disease in the third decade. Neuropathologically, the father presented with an extensive filamentous pathology made of hyperphosphorylated tau protein. Biochemically, recombinant tau protein with the P301S mutation showed a greatly reduced ability to promote microtubule assembly. ( info) |
8/600. Apraxia differs in corticobasal degeneration and left-parietal stroke: A case study. Corticobasal degeneration (CBD) is a progressive disorder characterized by both cortical and basal ganglia dysfunction such as asymmetrical apraxia, and akinetic rigidity, involuntary movements, and cortical sensory loss. Although apraxia is a key finding for the differential diagnosis of CBD, it has not been determined whether the features of apraxia seen in subjects with CBD are similar to those features exhibited by subjects with left-hemisphere damage from stroke. Therefore, for both clinical purposes and in order to better understand the brain mechanisms that lead to apraxia in CBD, we studied praxis in a patient with CBD and compared him to patients who are apraxic from left-parietal strokes. We used three-dimensional movement analyses to compare the features of apraxic movement. This subject with CBD was a dentist whose initial complaint had been that he "forgot" how to use his tools in the mouths of his patients. Analyses were performed on the trajectories made when using a knife to actually slice bread, and when repetitively gesturing slicing made to verbal command. Movements of the left hand, wrist, elbow, and shoulder were digitized in 3-D space. Although the CBD subject was clearly apraxic, the features of his apraxia differed markedly from those of the subjects with lesions in the left parietal lobe. For movements to command, the CBD subject showed joint coordination deficits, but his wrist trajectories were produced in the appropriate spatial plane, were correctly restricted to a single plane, and, like control subjects, were linear in path shape. However, when he was actually manipulating the tool and object, all of these aspects of his trajectories became impaired. In contrast, the deficits of the apraxic subjects with left-parietal damage were most pronounced to verbal command with their movements improving slightly although remaining impaired during actual tool and object manipulation. Unlike patients with parietal strokes, patients with CBD have degeneration in several systems and perhaps deficits in these other areas may account for the differences in praxic behavior. ( info) |
9/600. Apraxia in corticobasal degeneration. Corticobasal degeneration (CBD) is a degenerative disease that often presents with an asymmetric progressive ideomotor limb apraxia. Some apraxic subjects may fail to perform skilled purposive movements on command because they have lost the memories or representations that specify how these movements should be performed (representational deficit). In contrast, other apraxic subjects may have the movement representations but are unable to utilize the information contained in them to execute skilled purposive movements (production-execution deficit). To learn if the apraxic deficit in CBD is induced by a representational or a production-execution deficit, we tested three nondemented subjects with CBD on tasks requiring production of meaningful or meaningless gestures to command, gesture imitation, gesture discrimination, and novel gesture learning. A fourth subject with incomplete data also is presented. The results suggest that the apraxia associated with CBD is initially induced by a production-execution defect with relative sparing of the movement representations. ( info) |
10/600. In-vivo demonstration of dopaminergic degeneration in dementia with lewy bodies. With the dopaminergic presynaptic ligand FP-CIT and single photon emission tomography we have shown a severe dopaminergic degeneration in a patient with a necropsy confirmed diagnosis of dementia with lewy bodies (DLB). We suggest that functional imaging of the nigrostriatal dopamine pathway helps to distinguish DLB from Alzheimer's disease during life. ( info) |