Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings.

We report two siblings with autosomal recessive hereditary spastic paraplegia and thin corpus callosum. These patients had a similar history of progressive spastic gait, followed by mental impairment in the second decade. In addition to rigospasticity, ataxia, and foot deformity, both patients had congenital cataract on ophthalmologic examination. The association of cataract and thin corpus callosum suggests a distinct genetic disorder involving these structures in complicated spastic paraplegia.

Truncal and limb apraxia in corticobasal degeneration.

We report a patient with probable corticobasal degeneration with prominent truncal apraxia, and review the literature.

Postencephalitic pure anomic aphasia: 2-year follow-up.

We report a patient with pure anomic aphasia following encephalitis. Brain magnetic resonance imaging (MRI) revealed bilateral temporal lesions, and subsequent focal atrophy in the left anterior inferior temporal lobe. Over the course of a 2-year follow-up, the patient's naming difficulty persisted without other dysfunction of language or memory. These observations indicate a contribution of the left anterior inferior temporal region to object naming.

Comparison of brain perfusion in corticobasal degeneration and Alzheimer's disease.

To compare brain perfusion between corticobasal degeneration (CBD) and Alzheimer's disease (AD), we measured regional cerebral blood flow (rCBF) semiquantitatively with single-photon emission computed tomography in 10 patients with CBD and 16 with AD. There was no significant difference in age or illness duration between the patients with CBD and AD. Mini-Mental State Examination scores were significantly lower in the AD patients than in the CBD patients. All CBD patients showed asymmetric akinetic-rigid syndrome and limb apraxia. Four CBD patients were demented, and 1 AD patient had parkinsonism. Compared with 12 age-matched control subjects, the average of the left and right rCBF values for the CBD patients was significantly reduced in the prefrontal, anterior cingulate (AC), medial premotor, sensorimotor (SM), posterior parietal (PP) and superior temporal (ST) cortices as well as in the basal ganglia (BG) and thalamus (Th), while the prefrontal, PP and ST cortices were significantly hypoperfused in the AD patients. In the CBD patients, rCBF was significantly less in the AC and SM cortices, and in the Th and BG, and significantly greater in the PP cortex than in the AD patients. Interhemispheric differences of rCBF in the inferior prefrontal and SM cortices were significantly greater in the CBD patients than the AD patients. It is concluded that rCBF comparison may aid in differentiating CBD from AD.

[Neuropsychological comparison between corticobasal degeneration and progressive supranuclear palsy].

We conducted a neuropsychological comparison among cases with corticobasal degeneration (CBD; n = 8), those with progressive supranuclear palsy (PSP; n = 5) and healthy control subjects (n = 12) using an extensive neuropsychological battery assessing memory and executive functions. There were no significant differences among three groups for age, education, scores on the Mini-Mental State Examination and Zung's self-rating depression scale. Both patient groups showed retrieval impairment without recognition difficulties, and a dysexecutive syndrome. Along with those similarities, we observed some differences between CBD and PSP patients. Memory impairments in CBD patients were more marked than PSP patients in Rey's complex figure test, while they were less prominent in Rey's auditory verbal learning test. Perseverative errors of Nelson in Wisconsin card sorting test (Keio version) were more marked in CBD patients than in PSP patients. These two diseases showed memory and executive dysfunctions probably due to subcortico-frontal dysfunction. Some neuropsychological differences may help to distinguish CBD clinically from PSP.

Cerebral blood flow in corticobasal degeneration and progressive supranuclear palsy.

To compare brain perfusion between corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP), we investigated regional cerebral blood flow (rCBF) semiquantitatively with single-photon emission computed tomography and [123I]iodoamphetamine in six patients with CBD and five with PSP. Compared with 12 age-matched control subjects, the average of the left and right rCBF values for the CBD patients was significantly reduced in the inferior prefrontal, anterior cingulate, medial premotor, sensorimotor, posterior parietal, and superior temporal cortices as well as in the basal ganglia and thalamus, whereas only the medial premotor cortex was significantly hypoperfused in the PSP patients. Compared with the PSP patients, the CBD patients showed significantly decreased rCBF in the inferior prefrontal, sensorimotor, and posterior parietal cortices, but not in the subcortical regions. Compared with the controls, interhemispheric differences of rCBF were significant in the inferior prefrontal, sensorimotor, and posterior parietal cortices of the CBD patients but in only the medial prefrontal cortex of the PSP patients. These results indicate that rCBF reductions are more extensive and asymmetric in CBD than in PSP, although the two diseases share medial frontal involvement.

Pure anomic aphasia caused by a subcortical hemorrhage in the left temporo-parieto-occipital lobe.

There have been few case reports of pure anomic aphasia and the underlying mechanism remains to be clarified. We report a patient in whom pure anomic aphasia was caused by subcortical hemorrhage in the left temporo-parieto-occipital lobe. Based on magnetic resonance images and cerebral blood flow imaging, the structural lesion underlying the pure anomic aphasia was thought to be located at the left temporo-occipital junction.

Corneomandibular reflex in ALS.

To clarify the diagnostic value of corneomandibular reflex (CMR) in ALS, the authors examined the prevalence of CMR and other pathologic reflexes in 42 patients with ALS and 110 patients with stroke. A total of 30 of 42 ALS patients had positive CMR. Compared with the patients with hemiparesis or pseudobulbar palsy after stroke, the ALS patients showed a significantly higher frequency of CMR but no other pathologic reflexes. CMR is a sensitive indicator of upper motor neuron involvement in ALS.

Cerebral blood flow in pure dysarthria: role of frontal cortical hypoperfusion.

BACKGROUND AND PURPOSE: Isolated dysarthria, termed pure dysarthria, develops rarely after stroke, and its pathophysiology remains unclear. To clarify the underlying mechanism of pure dysarthria, we investigated lesion sites and cerebral blood flow in patients with pure dysarthria. METHODS: We examined 12 patients with pure dysarthria who underwent MRI and cerebral blood flow study. To visualize cortical blood flow, a three-dimensional display was generated from single-photon emission computed tomography (SPECT). Regional cerebral blood flow of the patients was semiquantitatively measured with SPECT and N-isopropyl-p[123I]iodoamphetamine as a tracer and compared with that of 11 control subjects. RESULTS: On MRI, multiple lacunar infarctions were noted bilaterally in 11 patients, all of whom had lesions involving the internal capsule or corona radiata. The other patient had a unilateral internal capsule-corona radiata infarction. Three-dimensional display showed frontal cortical hypoperfusion in 8 patients. Since interhemispheric differences of blood flow were not significant in any region of the 12 patients, the mean of left and right cortical blood flow was analyzed. Compared with the control subjects, cortical perfusion was significantly reduced in the patients' frontal regions, sparing the sensorimotor, temporal, and parietal cortices and the cerebellum. Reductions of perfusion were rather pronounced in the anterior opercular, medial prefrontal and premotor, and anterior cingulate regions. CONCLUSIONS: Pure dysarthria results mainly from multiple lacunar infarctions, which induce frontal cortical hypoperfusion, probably due to interruption of corticosubcortical networks. We conclude that frontal cortical hypoperfusion, particularly in the anterior opercular and medial frontal regions, plays an important role in the development of pure dysarthria.

Cerebral blood flow correlates of higher brain dysfunctions in corticobasal degeneration.

To investigate clinicoanatomic correlations of higher brain dysfunctions in corticobasal degeneration, regional cerebral blood flow (rCBF) was semiquantitatively measured with single-photon emission computed tomography in 9 patients with corticobasal degeneration and 12 age-matched control subjects. The patients showed significant reductions of relative tracer uptake in widespread cortical areas, as well as the basal ganglia and thalamus. Interhemispheric difference of hypoperfusion was significant in the sensorimotor and posterior parietal cortices. Asymmetric limb apraxia and cortical sensory disturbance corresponded to either sensorimotor cortical or posterior parietal cortical hypoperfusion or both. Compared with the patients without dementia, those with dementia showed significant reductions of relative rCBF in the inferior prefrontal region in the more affected hemisphere. The unique correlation of cortical signs with regional hypoperfusion may be useful in distinguishing between corticobasal degeneration and other neurodegenerative diseases.

Electrophysiological comparison between corticobasal degeneration and progressive supranuclear palsy.

Multimodal evoked potentials were recorded in four patients with corticobasal degeneration (CBD), four patients with progressive supranuclear palsy (PSP) and 15 normal control subjects. CBD and PSP patients showed significant prolongation of the N200 and P300 latencies of auditory event-related potentials compared with controls. Patients with CBD showed significant prolongation of interpeak latencies between N13 and N20 of short-latency somatosensory evoked potentials compared with the controls and patients with PSP. The present results show that the two diseases have different electrophysiologic features.

Asymmetric changes in somatosensory evoked potentials correlate with limb apraxia in corticobasal degeneration.

To clarify the underlying mechanism of limb apraxia in corticobasal degeneration (CBD), we investigated somatosensory evoked potentials in 5 patients with CBD, as compared with 12 age-matched control subjects. All patients presented with asymmetric limb apraxia, particularly of limb-kinetic type. N20 latencies were significantly prolonged following median nerve stimulation on the more apraxic side, but not on the less apraxic side. These results suggest that limb apraxia in CBD may, at least in part, be due to a disorder of somatosensory information processing involving the parietal cortex.

Transient worsening of Parkinson's disease after cigarette smoking.

We report a patient with probable Parkinson's disease who experienced a temporary worsening of his symptoms and signs after cigarette smoking. Deterioration of tremor, rigidity, and writing disturbance began soon after the inhalation of cigarette smoke and persisted for 15 minutes. Chewing nicotine gum also induced a brief worsening of the patient's symptoms. Aggravation of parkinsonian symptoms after cigarette smoking appeared to be caused by nicotine alone, although the mechanism for this effect remains unclear.

Motor neuron disease following generalized fasciculations and cramps.

We report a case of motor neuron disease in which fasciculations and cramps progressed generally before the development of muscle wasting. After involvement of the upper and lower motor neurons became clinically manifest, widespread fasciculations and cramps persisted and accompanied pseudotetany. The present case suggests that spinal cord pathology of motor neuron disease can cause the abnormal excitability of the motor neurons, resulting in the development of generalized fasciculations and cramps.

[A case of allergic granulomatous angitis with beneficial effects of plasma exchange].

A 54-year-old man had suffered from bronchial asthma, followed by numbness and muscle weakness of the extremities. He was admitted to our department in July, 1994, because of progression of the symptoms. On admission, neurological examination revealed muscle weakness with atrophy and sensory disturbance of multiple mononeuritic type. Blood tests revealed eosinophilia and an increase in rheumatoid factor, IgE levels and P-ANCA. A sural nerve biopsy showed necrotizing vasculitis and inflammation with eosinophil infiltration. The patient was diagnosed as having allergic granulomatous angitis,and treated with steroid pulse therapy without beneficial effect. Plasma exchange was performed twice, which resulted in remarkable improvement in motor and sensory disturbance. The present case suggests that plasma exchange has beneficial effects on severe cases with allergic granulomatous angitis.

Early morphological changes in the thalamocortical projection onto the parietal cortex following ablation of the motor cortex in the cat.

Following a previous report that the cerebellar-induced cerebral response in the parietal cortex changes acutely after ablation of the frontal motor cortex, the present experiments tested whether morphological changes of the thalamo-parietal projection occur after ablation of the motor cortex. Anterograde and retrograde tracing with wheat germ agglutinin conjugated with horseradish peroxidase was used in intact and lesioned cats. The thalamocortical projection was labeled anterogradely by tracer injection into the thalamic ventral anterior and ventral lateral (VA-VL) nuclear complex that mainly relays the cerebello-cerebral projection, and thalamic neurons were labeled retrogradely by injection of the tracer into the parietal cortex. The labeled terminals in the parietal cortex of the intact animals were distributed densely in layer I and sparsely in layers III-IV, whereas those of the lesioned animals were distributed densely in layers I and III-IV. The distribution of the retrogradely labeled neurons after multiple tracer injections in layers III-IV of the parietal cortex was different in the intact and lesioned cats. In the intact animals, the labeled neurons were distributed sparsely in the central lateral nucleus and in the lateral posterior and pulvinar nuclear complex. In contrast, after ablation of the frontal cortex, the labeled neurons were also observed in the VA-VL nuclear complex. These differences between the intact and lesioned animals were detectable within 48 h after the lesion.

Parkinsonism after acute cadmium poisoning.

A 64-year-old man suffered from acute exposure to cadmium, followed by multiple organ failure. Three months after exposure, the patient developed parkinsonian features. The case suggests that cadmium intoxication may damage the basal ganglia, resulting in parkinsonism.