1/34. 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 = 1keywords = olivopontocerebellar atrophy, olivopontocerebellar, atrophy (Clic here for more details about this article) |
2/34. Disappearance of rhythmic involuntary movements during sleep in a case of olivopontocerebellar atrophy.We report on a 54-year-old woman with an 8 or so year history of olivopontocerebellar atrophy associated with the rhythmic involuntary movements of the left upper and lower limbs, and cervical region. Surface electromyogram of the left upper limb revealed rhythmicity (about 3 Hz) and reciprocity between antagonistic muscles, which disappeared on polysomnography at all sleep stages including rapid eye movement sleep without atonia. These were characterized by the co-existence of rhythmic skeletal myoclonus and parkinsonian tremor. These findings suggest that a disturbance of the striatonigral system as well as the dentato-rubro-olivary circuit may be involved in these movements. It also seems that their fate is dependent on the level of wakefulness and that the ascending reticular activating system also plays a role in the development of these movements.- - - - - - - - - - ranking = 4.9962006571545keywords = olivopontocerebellar atrophy, olivopontocerebellar, atrophy (Clic here for more details about this article) |
3/34. Hypertrophic olivary degeneration following surgical excision of brainstem cavernous hemangioma: a case report.Hypertrophic olivary degeneration (HOD) is a rare type of neuronal degeneration involving the dento-rubo-olivary pathway. It is distinguished from other types of neuronal degeneration in that hypertrophy, rather than atrophy, takes place in the neurons in the inferior olivary nucleus. Prior to the invention of magnetic resonance imaging (MRI), HOD was difficult to be detected, and a firm diagnosis could only be made at autopsy. We present a case of bilateral HOD following surgical excision of a cavernous hemangioma in the brainstem. The literature and imaging findings of this uncommon condition are reviewed.- - - - - - - - - - ranking = 0.00025328952303308keywords = atrophy (Clic here for more details about this article) |
4/34. Postural and action myoclonus in patients with parkinsonian type multiple system atrophy.patients with a parkinsonian syndrome and features of multisystem atrophy (pMSA) may exhibit abnormal movements of the hands and fingers, which are reported in the literature either as "jerky" tremor or myoclonus. We studied clinically and electrophysiologically these movements in 11 consecutive patients with pMSA. No abnormal movements were observed when the patients were at complete rest, except for a characteristic parkinsonian "pill-rolling" tremor in one patient. Abnormal small-amplitude, nonrhythmic movements involving just one or a few fingers, or more rarely the whole hand, were observed in nine patients when holding a posture or at the beginning of an action. Accelerometric recordings showed small-amplitude irregular oscillations which, contrary to those of patients with tremor, had no predominant peak in the Fast Fourier frequency spectrum analysis. Electromyographic recordings in the forearm and hand muscles showed brief jerks of less than 100 ms duration which were synchronous in antagonist muscles of the forearm and alternated with brief periods of silence. Electrical stimulation of the digital nerves evoked consistent reflex responses in the wrist flexor and extensor muscles at a latency of 55.3 /-4.1 ms (range, 50-63 ms). Routine electroencephalographic (EEG) and somatosensory evoked potentials to median nerve stimulation were normal. back-averaging of the EEG activity time-locked to the jerks was performed in two patients with no evidence of abnormal cortical activity. Two patients had episodes of transient respiratory failure related to pneumonia. This caused a long-lasting enhancement of the abnormal hand and finger movements, which became larger and more widespread, with features of posthypoxic myoclonus. We conclude that the abnormal hand and finger movements of patients with pMSA are a form of postural and action myoclonus, and can be described as mini-polymyoclonus.- - - - - - - - - - ranking = 0.0012664476151654keywords = atrophy (Clic here for more details about this article) |
5/34. syndrome of progressive ataxia and palatal myoclonus: a case report.A 46-year old man presented with progressive cerebellar ataxia for 5 years. physical examination revealed palatal and tongue myoclonus, cerebellar gait, limb ataxia and spasticity of the lower extremities. The imaging studies including CT-scan and MRI of the brain revealed progressive pancerebellar atrophy and bilateral hypertrophic degeneration of inferior olives. The clinical course was slowly progressive. Various medications included anticonvulsants, benzodiazepines and antispasticity failed to abolish the abnormal palatal movement and ataxic syndrome. The syndrome of progressive ataxia and palatal myoclonus is a rare and unique neurodegenerative syndrome. The pathogenesis and treatment are still unknown.- - - - - - - - - - ranking = 0.00025328952303308keywords = atrophy (Clic here for more details about this article) |
6/34. Cortical myoclonus and cerebellar pathology.OBJECTIVE: To study the electrophysiologic and pathologic findings in three patients with cortical myoclonus. In two patients the myoclonic ataxic syndrome was associated with proven celiac disease. BACKGROUND: The pathologic findings in conditions associated with cortical myoclonus commonly involve the cerebellar system, but there has only been one report of cerebellar pathology in a patient in whom cortical myoclonus was physiologically characterized antemortem. methods: Cortical somatosensory evoked potentials (SEPs) were recorded and EEG activity was averaged preceding myoclonic electromyographic activity. In one patient cortico-cortical inhibition was tested using two paired ipsilateral magnetic stimuli over the motor strip. Neuropathologic examination was carried out, including linear Purkinje cell densities/millimeter calculations for different regions of the cerebellum. RESULTS: The electrophysiology showed evidence of dysfunction of the sensorimotor cortex with enlarged SEPs and a time-locked cortical potential preceding the action myoclonus. In addition, motor cortical inhibition was abnormal in one case. pathology showed unremarkable primary sensory, motor, and premotor cerebral cortices, except for unilateral gliosis of the motor cortex in one case. The cerebellum showed patchy atrophy and ongoing degeneration. A striking feature was the greater severity of Purkinje cell loss and Bergmann gliosis in the outer aspects than in the depths of the folia. CONCLUSIONS: Pathologic abnormalities are paradoxically mainly located in the cerebellum in some patients with cortical myoclonus, despite clear electrophysiologic evidence of cortical dysfunction. This observation suggests that enhanced excitability of the sensorimotor cortex may arise as a distant effect of cerebellar pathology.- - - - - - - - - - ranking = 0.00025328952303308keywords = atrophy (Clic here for more details about this article) |
7/34. Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures.We report clinical, neuropathologic and molecular genetic data from an individual affected by a familial alzheimer disease (AD) variant. The proband had an onset of dementia at age 29 followed by generalized seizures a year later. He died at age 40. Neuropathologically, he had severe brain atrophy and characteristic histopathologic lesions of AD. Three additional neuropathologic features need to be emphasized: 1) severe deposition of Abeta in the form of diffuse deposits in the cerebral and cerebellar cortices, 2) numerous Abeta deposits in the subcortical white matter and in the centrum semiovale, and 3) numerous ectopic neurons, often containing tau-immunopositive neurofibrillary tangles, in the white maner of the frontal and temporal lobes. A molecular genetic analysis of dna extracted from brain tissue of the proband revealed a S169L mutation in the Presenilin 1 (PSEN1) gene. The importance of this case lies in the presence of ectopic neurons in the white matter, early-onset seizures, and a PSEN1 mutation. We hypothesize that the PSEN1 mutation may have a causal relationship with an abnormality in neuronal development.- - - - - - - - - - ranking = 0.00025328952303308keywords = atrophy (Clic here for more details about this article) |
8/34. Masked myoclonus in corticobasal degeneration: neurophysiological study of a case.A single case study of a 58 year-old male with right asymmetric apraxia and akinetic-rigid syndrome is described. Brainimaging scans (MRI, SPECT) indicated asymmetric cortical atrophy compatible with the diagnosis of Corticobasal Degeneration. reflex myoclonus was absent and myoclonic discharges only appeared in response to pharmacological treatment of limb dystonia and rigidity. Electromyographic evidence of jerky movements was recorded only in the affected right hand and forearm after muscle relaxation, and myoclonus was not preceded by an EEG paroxysm. The cortical components of the correspondent SEPs were not increased in amplitude while LLRs recordings showed a late response over the muscles of the affected side. Furthermore, the duration of post MEP silent period was bilaterally reduced. This single case study report points out that sometimes myoclonus in Corticobasal Degeneration can be masked by the presence of increased muscle tone.- - - - - - - - - - ranking = 0.00025328952303308keywords = atrophy (Clic here for more details about this article) |
9/34. Autosomal dominant palatal myoclonus and spinal cord atrophy.We report a new family with palatal myoclonus, pyramidal tract signs, cerebellar signs, marked atrophy of the medulla oblongata and spinal cord, and autosomal dominant inheritance. These findings were almost identical with those in patients previously reported to have histopathologically confirmed adult-onset alexander disease. Recently, heterozygous point mutations in the coding region of glial fibrillary acidic protein (GFAP) in patients with an infantile form of Alexander disease have been reported. We found a new heterozygous amino acid substitution, Val87Gly in exon 1 of GFAP, in the affected individuals in this family but not in 100 spinocerebellar ataxia (SCA) patients and 100 controls. Therefore, this family might have new clinical entities related to adult-onset alexander disease and GFAP mutation.- - - - - - - - - - ranking = 0.0012664476151654keywords = atrophy (Clic here for more details about this article) |
10/34. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant cerebellar ataxia caused by expansion of CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. Because the number of triplets in patients with SCA17 in previous studies ranged from 43 to 63, the normal number of trinucleotide units has been considered to be 42 or less. However, some healthy subjects in SCA17 pedigrees carry alleles with the same number of expanded repeats as patients with SCA17. OBJECTIVE: To investigate the minimum number of CAG/CAA repeats in the TBP gene that causes SCA17. DESIGN: We amplified the region of the TBP gene containing the CAG/CAA repeat by means of polymerase chain reaction and performed fragment and sequence analyses. patients: The subjects included 734 patients with SCA (480 patients with sporadic SCA and 254 patients with familial SCA) without CAG repeat expansions at the SCA1, SCA2, machado-joseph disease, SCA6, SCA7, or dentatorubral-pallidolluysian atrophy loci, with 162 healthy subjects, 216 patients with parkinson disease, and 195 with alzheimer disease as control subjects. RESULTS: Eight patients with SCA possessed an allele with more than 43 CAG/CAA repeats. Among the non-SCA groups, alleles with 43 to 45 repeats were seen in 3 healthy subjects and 2 with parkinson disease. In 1 SCA pedigree, a patient with possible SCA17 and her healthy sister had alleles with 45 repeats. A 34-year-old man carrying alleles with 47 and 44 repeats (47/44) had developed progressive cerebellar ataxia and myoclonus at 25 years of age, and he exhibited dementia and pyramidal signs. He was the only affected person in his pedigree, although his father and mother carried alleles with mildly expanded repeats (44/36 and 47/36, respectively). In another pedigree, 1 patient carried a 43-repeat allele, whereas another patient had 2 normal alleles, indicating that the 43-repeat allele may not be pathologic in this family. CONCLUSIONS: We estimate that 44 CAG/CAA repeats is the minimum number required to cause SCA17. However, the existence of unaffected subjects with mildly expanded triplets suggests that the TBP gene mutation may not penetrate fully. Homozygosity of alleles with mildly expanded triplet repeats in the TBP gene might contribute to the pathologic phenotype.- - - - - - - - - - ranking = 0.00025328952303308keywords = atrophy (Clic here for more details about this article) |
| | Next -> |