1/76. cerebellar ataxia following whooping cough.bordetella pertussis (BP), the agent of whooping cough, has not been recognized so far as a cause of permanent cerebellar ataxia in human. We describe three patients who developed a disabling and permanent cerebellar syndrome soon after whooping cough. In two patients, diagnosis of BP infection was confirmed by culture of nasopharyngeal secretions. The infection occurred between the age of 13 and 15 years, with neurological symptoms beginning after a delay varying from 3 weeks to 3 months. In our three patients, the cerebellar syndrome was characterized by dysmetria of ocular saccades, scanning speech and ataxic gait. Brain MRI demonstrated a pancerebellar atrophy. The pathogenesis of this cerebellar degeneration is not established. Experimental studies have demonstrated that the cerebellum is particularly vulnerable to lymphocytosis-promoting factor (LPF), one of the exotoxins from BP. The mechanism of this toxicity might be a marked increase in the cellular levels of 3',5'cyclic guanosine monophosphate (cGMP). Since whooping cough is a bacterial exotoxin-mediated disease, this is the first report of a cerebellar syndrome triggered by a bacterial exotoxin.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
2/76. 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 = degeneration (Clic here for more details about this article) |
3/76. Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.Autosomal dominant cerebellar ataxias (ADCAs) are a complex group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. The spinocerebellar ataxia type 7 (SCA7) is associated with pigmentary macular dystrophy and retinal degeneration leading to blindness caused by a CAG/polyglutamine (polyGln) expansion in the coding region of the SCA7 gene/protein. The SCA7 gene codes for ataxin-7, a protein of unknown function. To investigate its cellular and subcellular localization, we have developed a sequence-specific polyclonal antibody against the N-terminal part of the protein. Immunohistochemical analysis indicated that ataxin-7 accumulates as single nuclear inclusion (NI) in the cells of the brain and retina of a SCA7 patient but not of controls. The 1C2 antibody, directed against expanded polyGln, confirmed the aggregation of mutant ataxin-7 in these NIs. Furthermore, ubiquitin was found in these aggregates, suggesting that mutant ataxin-7 is a target for ubiquitin-dependent proteolysis, but resistant to removal. Electron microscopic studies using immunogold labeling showed that ataxin-7 immunoreactive NIs appear as dense aggregates containing a mixture of granular and filamentary structures. Together, these data confirm the presence of NIs in brain and retina of a SCA7 patient, a common characteristic of disorders caused by expanded CAG/polyGln repeats.- - - - - - - - - - ranking = 12.416827549827keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
4/76. 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 = 1keywords = degeneration (Clic here for more details about this article) |
5/76. Anti-Ri-associated paraneoplastic cerebellar degeneration without opsoclonus in a patient with a neuroendocrine carcinoma of the stomach.We report a case of a 63-year-old man suffering from anti-Ri-associated paraneoplastic cerebellar degeneration (PCD) with gastric cancer. The neurologic presentation was limited to severe cerebellar ataxia without opsoclonus. The gastric cancer was composed of both poorly differentiated adenocarcinoma and neuro-endocrine carcinoma. The patient's serum reacted with recombinant Ri antigen and the neuroendocrine tumor component. It is thus considered that PCD without opsoclonus in the present case was related to the gastric neuroendocrine tumor and anti-Ri antibody.- - - - - - - - - - ranking = 5keywords = degeneration (Clic here for more details about this article) |
6/76. A new familial adult-onset leukodystrophy manifesting as cerebellar ataxia and dementia.BACKGROUND: Among hereditary leukodystrophies, a considerable number remain unclassified. patients AND RESULTS: We investigated the clinical course and histopathology of one patient in a family of adult-onset leukodystrophy with possible dominant inheritance. A 44-year-old man presented with cerebellar ataxia as the initial symptom, and later, dementia and hyperreflexia with ankle clonus developed. T2-weighted brain MRI showed brain atrophy and diffuse high signal intensity of the cerebral white matter and the brain stem. The patient's mother and older brother also had cerebellar ataxia and dementia, and his older brother had been diagnosed as having spinocerebellar degeneration. An older sister of our patient possibly had similar neurological symptoms of adult-onset. Our patient died of pneumonia 5 years after the onset of disease. The histopathological findings consisted mainly of patchily observed vacuolar changes in the cerebral and cerebellar white matter and the brain stem. The subcortical regions and the cortex were unaffected. It is suggested that the pathological changes began in the cerebellum, and later spread to the frontal lobe and the brain stem. In the occipital regions, the vacuolations were associated with accumulation of macrophages and astrocytosis, which implied that the vacuolations were of recent origin. CONCLUSIONS: The diagnosis in this patient is adult-onset leukodystrophy with possibly autosomal dominant inheritance. The clinicopathological features are different from those, of previously reported adult-onset leukodystrophies.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
7/76. Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy.BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration that exhibits a variety of neurologic manifestations. However, only a few reports have studied disturbances outside the central nervous system. We described 2 unrelated patients with DRPLA accompanied by corneal endothelial degeneration. patients AND methods: A 52-year-old man presented with cerebellar ataxia and dementia. magnetic resonance imaging of the brain showed cerebellar atrophy. Dentatorubral-pallidoluysian atrophy was diagnosed because of the detection of expansion of CAG repeats at the DRPLA locus. On admission, his visual acuity was severely impaired. Specular microscopy showed decreased endothelial cell density (500 cells/mm(2)) compared with that of healthy subjects. The second patient was a 69-year-old man with cerebellar ataxia. magnetic resonance imaging of the brain showed cerebellar and brainstem atrophy. The diagnosis of DRPLA was based on expanded CAG repeats of the DRPLA gene. Specular microscopy showed significant decrease of endothelial cell density (1506 cells/mm(2)). Reverse transcriptase-polymerase chain reaction analysis showed DRPLA gene expression in corneal endothelial cells. CONCLUSIONS: Mutant DRPLA protein may be directly associated with corneal endothelial degeneration. corneal endothelial cell loss is an important sign of DRPLA, and the corneas of patients with DRPLA should be examined.- - - - - - - - - - ranking = 7keywords = degeneration (Clic here for more details about this article) |
8/76. Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy.PURPOSE: In 1980, we published in the American Journal of ophthalmology two siblings with hereditary ataxia and atrophic maculopathy. The report is cited in the literature as autosomal dominant cerebellar ataxia with retinal degeneration. The purpose of the present study is to document the progression of the neurodegenerative disorder and to review the diagnosis. DESIGN: Observational case report. methods: Twenty years after the original publication, the 52-year-old male patient had new ocular and neurologic examinations, fluorescein angiography, molecular genetic analysis, and biochemical testing. RESULTS: fluorescein angiography showed marked progression of the macular dystrophy to a bull's-eye configuration. Genetic analysis of the patient did not show CAG trinucleotide repeat expansion in the various spinocerebellar ataxia genes. This excludes the diagnosis of autosomal dominant cerebellar ataxia with macular degeneration (ADCA type II) with mutation of the spinocerebellar ataxia 7 gene. Major causes of autosomal recessive cerebellar ataxia with retinal degeneration, including friedreich ataxia and congenital disorders of glycosylation, were also excluded. CONCLUSION: The two patients, previously published in the American Journal of ophthalmology by Eerola and coworkers, did not suffer from presently recognized disorders with cerebellar ataxia and retinal degeneration. The Eerola syndrome probably represents a separate neurodegenerative entity characterized by autosomal recessive cerebellar ataxia and progressive macular dystrophy with a bull's-eye pattern.- - - - - - - - - - ranking = 35.250482649482keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
9/76. A patient homozygous for the SCA6 gene with retinitis pigmentosa.The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X-linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed.- - - - - - - - - - ranking = 11.416827549827keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
10/76. Probable sporadic Creutzfeldt-Jakob disease with valine homozygosity at codon 129 and bilateral middle cerebellar peduncle lesions.We describe a 67-year-old Japanese man with probable sporadic Creutzfeldt-Jakob disease (CJD) who had valine homozygosity at codon 129, a rarity in the Japanese. T2-weighted magnetic resonance imaging (MRI) detected high-intensity lesions in the bilateral middle cerebellar peduncles and basal ganglia as well as cerebellar and cortical atrophy. He developed cerebellar ataxia and subsequent mental deterioration, myoclonus, and periodic synchronous discharge as shown in an electroencephalogram. cerebrospinal fluid examination showed a high level of neuron-specific enolase and a positive immunoassay for the 14-3-3 protein. He died of pneumonia 10 months after the initial symptoms appeared. Whether or not the genetic polymorphism increased his susceptibility to sporadic CJD is not clear because valine homozygosity at codon 129 is less than 1% in the normal Japanese population. Although there is no convincing evidence in the present case, the MRI findings of cerebellar peduncle changes, which are rare in CJD, suggest a kind of degeneration, demyelination, or both.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
| | Next -> |