1/102. A kinematic study of progressive apraxia with and without dementia.BACKGROUND: Prehension is an ideationally simple, cued movement requiring proximal (transport) and distal (manipulation) limb control. patients with this syndrome of progressive apraxia are unable to perform many activities of daily living that require prehension. There is little known about how this syndrome kinematically disrupts such movements or whether concurrent dementia might play a critical role. OBJECTIVES: Using prehension as a paradigm for an ideationally simple, cued functional movement, we sought to (1) characterize the kinematic features of progressive apraxia in general, and (2) contrast the kinematic differences between apraxic patients with and without dementia. methods: Eight patients with the syndrome of progressive apraxia (including five without dementia, one of whom had autopsy-confirmed corticobasal ganglionic degeneration, and three with dementia, one of whom had autopsy-confirmed Alzheimer's disease) were compared with eight age-matched normal control subjects on a prehension task using an Optotrak camera system. RESULTS: Compared with control subjects, apraxic subjects had slowed reaction time, slowed transport and manipulation kinematics, greater lateral deviation from the linear prehension trajectory, greater intermanual asymmetry, motor programming disturbances, and mild transport-manipulation uncoupling. There were minor differences between the apraxia subgroups such as greater intermanual differences and impaired grip aperture velocity in the nondemented group, and overall slower movement in the demented group. CONCLUSIONS: There are major kinematic differences between apraxic and control subjects on a prehension task. The differences between clinical-pathologic subgroups are more subtle, and the movement disorder itself rather than concurrent dementia is the greatest determinant of motor disability.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
2/102. 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.- - - - - - - - - - ranking = 6.0096335062071keywords = degeneration, neuron (Clic here for more details about this article) |
3/102. magnetic resonance imaging findings in corticobasal degeneration.Two women (patient 1, 77 years old, and patient 2, 63 years old) with strong clinical evidence for corticobasal degeneration (CBD) are presented. Patient 2 was in an early stage of the disease with only a mild disability of her left hand. In addition to the clinical characteristics, both patients presented the typical cortical reflex myoclonus. magnetic resonance imaging studies for both patients revealed nearly identical hyperintense lesions somatotopic from the left-hand primary motor cortex (M1), extending to the midline and possibly supplementary motor area (SMA) in patient 2. To our knowledge, this has not been previously described in patients with CBD. These lesions may play a role in the etiology and the development of CBD with involvement of the M1 and may correspond to the underlying pathology of demyelination or gliosis.- - - - - - - - - - ranking = 5keywords = degeneration (Clic here for more details about this article) |
4/102. Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease.We describe a patient with an unusual clinical presentation of progressive multiple cranial nerve palsies, cerebellar ataxia, and palatal tremor (PT) resulting from an unknown etiology. magnetic resonance imaging showed evidence of hypertrophy of the inferior olivary nuclei, brain stem atrophy, and marked cerebellar atrophy. This combination of progressive multiple cranial nerve palsies, cerebellar ataxia, and PT has never been reported in the literature. We have also reviewed the literature of PT secondary to neurodegenerative causes. In a total of 23 patients, the common causes are sporadic olivopontocerebellar atrophy (OPCA; 22%), Alexander's disease (22%), unknown etiology (43.4%), and occasionally progressive supranuclear palsy (4.3%) and spinocerebellar degeneration (4.3%). Most patients present with progressive cerebellar ataxia and approximately two thirds of them have rhythmic tremors elsewhere. Ear clicks are observed in 13% and evidence of hypertrophy of the inferior olivary nucleus in 25% of the patients. The common neurodegenerative causes of PT are OPCA/multiple system atrophy, Alexander's disease, and, in most of them, the result of an unknown cause.- - - - - - - - - - ranking = 1.001063022073keywords = degeneration, nerve (Clic here for more details about this article) |
5/102. Problems and pitfalls in the diagnosis of ALS.Although misdiagnosis of amyotrophic lateral sclerosis (ALS) is rare, it may be more difficult to make a diagnosis in some groups of patients than in others. If a patient presents in the later stages of the disease, only a small number of alternative diagnoses need to be considered. These include spinal muscular atrophies of adult onset, inclusion body myositis and motor neuropathies with conduction block. The latter group in particular may present a serious diagnostic problem, as several groups have recently reported patients suffering from lower motor neuron syndrome without detectable conduction block, who responded unexpectedly to treatment with immunoglobulins. As recent laboratory results suggest that a lengthy pre-clinical period may precede clinical ALS, there is increased pressure for clinicians to make an early diagnosis so that the maximum effect can be achieved from neuroprotective drugs. Thus, diseases such as distal motor amyotrophies, pressure palsies of motor branches of hand nerves, and cervical myelopathies, which can be differentiated mainly by their time-course, may be relevant in the differential diagnosis of ALS in some patients. During recent years, a few patients have been seen in our clinic who presented with pure motor deficits but later developed a more complex pattern of vulnerability suggestive of multisystem degeneration. The existence of patients with a disease that borders the spectrum of motor neuron diseases cannot be disputed. These patients include those carrying the Huntington mutation and those suffering from guam and new guinea disease ('ALS/PD'). From our experience, however, these 'difficult' diagnoses represent less than 10% of the patients seen in our clinic.- - - - - - - - - - ranking = 1.0194441827598keywords = degeneration, neuron, nerve (Clic here for more details about this article) |
6/102. Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease.We report a 2-year-old boy with ethylmalonic aciduria and vasculopathy syndrome evaluated by 18fluoro-2-deoxyglucose positron emission tomographic (18FDG PET) brain scan, with intense uptake of 18FDG in the caudate nucleus and putamen bilaterally but with no morphological changes on magnetic resonance imaging (MRI). A repeat 18FDG PET brain scan 1 year later showed a significant bilateral decreased uptake of glucose in the putamen and the head of the caudate nucleus as well as a decreased uptake in the frontal lobes. On MRI, there was atrophy and watershed infarcts in the basal ganglia, explaining the loss of glucose uptake. These results reflect a selective vulnerability of the basal ganglia, their functional derangement, and ultimate degeneration.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
7/102. Alzheimer's disease pathology in motor cortex in dementia with lewy bodies clinically mimicking corticobasal degeneration.We report here a 70-year-old woman whose initial clinical presentation suggested corticobasal degeneration, but autopsy revealed dementia with lewy bodies (DLB) with severe Alzheimer's disease (AD)-type pathology accentuated in the motor cortex, in conjunction with a high burden of both cortical and brain stem LB. review of the literature disclosed four patients with AD whose peri-Rolandic region was particularly involved by the disease and who exhibited similar clinical and neuropathological findings as in our patient except they lacked LB. It appears that DLB if associated with severe AD-type pathology can, like some unusual cases of AD, mimic corticobasal degeneration.- - - - - - - - - - ranking = 6keywords = degeneration (Clic here for more details about this article) |
8/102. subacute combined degeneration of the spinal cord with involvement of the anterior columns: a new MRI finding.We present a case of vitamin B12 deficiency and subacute combined degeneration in a patient with a gastrectomy. MRI showed high-signal lesions on T2-weighted images in both the posterior and anterior columns, associated with minor thoracic spinal cord expansion. The patient was treated with B12 supplements and clinical improvement was associated with reduction of the size of the lesions on MRI.- - - - - - - - - - ranking = 5keywords = degeneration (Clic here for more details about this article) |
9/102. Rhythmic cortical and muscle discharges induced by fatigue in corticobasal degeneration.We describe a patient presenting clinical features of corticobasal degeneration (CBD), including reflex myoclonus in the left upper limb. This patient complained of a marked worsening of involuntary movements in the left upper limb after exercise. We analysed the electrophysiological characteristics of myoclonus in the basal state and after a fatiguing exercise in the left upper limb. In the basal condition, single trials recording EEG showed a cortical complex occurring 20 ms after stimulation of the left median nerve. Surface EMG recordings of the left first dorsal interosseous (FDI) revealed an isolated biphasic C1 response 49 ms after stimulation. After exercise, single trials recording EEG following shocks to the left median nerve showed rhythmic complexes with a duration of approximately 80 ms. EEG complexes were made of a series of 3 bursts, with intervals between bursts tending to cluster at approximately 22 ms. These rhythmic complexes were associated with repetitive activity in the left FDI. We conclude that rhythmic cortical and muscle discharges can be induced by fatigue in CBD.- - - - - - - - - - ranking = 5.000354340691keywords = degeneration, nerve (Clic here for more details about this article) |
10/102. A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis.A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopathy, though neonatal seizures were not evident. Serial cranial MRIs showed progressive brain atrophy and a white matter change. Neuropathological examination revealed a neurodegenerative disease mainly involving the white matter with olivopontocerebellar degeneration. She also had the nephronophthisis-medullary cystic disease complex and an early stage of focal segmental glomerulosclerosis. Her grandaunts had renal diseases, one of whom died of renal failure in adolescence, and her father showed cerebellar symptoms since the middle age. All possible metabolic studies were negative. This case is similar to Senior-Loken syndrome, but distinct in terms of the severe and progressive neurological symptoms, suggestive of a new malignant syndrome with some inherent metabolic derangement affecting both the nervous system and the kidneys.- - - - - - - - - - ranking = 6keywords = degeneration (Clic here for more details about this article) |
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