1/47. 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 = gait (Clic here for more details about this article) |
2/47. Opsoclonus in a patient with cerebellar dysfunction.After two days of malaise, headache, nausea, and vomiting, a 26-year-old man suddenly developed opsoclonus and stance and gait ataxia, without myoclonus. Having excluded a paraneoplastic etiology, we assumed that the disorder was probably related to a viral infection. Spontaneous resolution occurred in about two months. Opsoclonus became flutter dysmetria and then resolved. Saccadic eye movement recording disclosed the occurrence of hypermetria, increased velocity, and delayed latency, which also resolved. In this patient, the correspondence between clinical and ocular motor abnormality courses suggests a transient cerebellar dysfunction as the possible pathophysiologic mechanism for opsoclonus.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
3/47. Paroxysmal tonic upgaze: physiopathological considerations in three additional cases.Paroxysmal tonic upgaze of childhood has been described as a benign distinctive syndrome of abnormal ocular movement, with or without concomitant ataxia. After the first observation of four children, a further 29 patients have been reported with a wide spectrum of neurologic abnormalities such as ataxia, unsteady of gait, learning disabilities and mental retardation at follow-up. Electroencephalograms were normal in all the subjects and magnetic resonance imaging showed deficient myelination in only one patient. Recently it has been suggested that paroxysmal tonic upgaze could be a heterogeneous syndrome, ranging from a simply age-dependent manifestation to a clinical appearance of a variety of disorders affecting the corticomesencephalic loop of vertical eye movement. Moreover, it also could be an early sign of more widespread neurologic dysfunction. We describe three patients who presented paroxysmal tonic upgaze; in one, ataxia was present; in the second child, ataxia and language disorder also were observed; and in the third patient paroxysmal tonic upgaze was associated with loss of muscle tone (drop-attack-like events). On magnetic resonance imaging, a pinealoma compressing the dorsal mesencephalic region was detected. On the basis of our observations, we suggest that any insult with periaqueductal mesencephalic gray-matter involvement could be considered the basic condition for this peculiar clinical manifestation.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
4/47. 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 = gait (Clic here for more details about this article) |
5/47. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation.We present here 5 patients with hereditary cerebellar ataxia with peripheral neuropathy and mental retardation as determined by clinical, pathological, and molecular studies. The most characteristic features of this disorder, in contrast to Friedreich's ataxia, were early onset of ataxic gait, mental retardation, and a marked atrophy of the cerebellum. sural nerve biopsy showed a reduction of myelinated fibers. The expansion of a GAA triplet repeat within the first intron of the frataxin gene, which causes Friedreich's ataxia, was not identified in any of the patients. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation represents a specific clinical entity that so far has only been described in japan.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
6/47. A case of endolymphatic sac tumor with long-term survival.A 72-year-old man developed left facial palsy at age 14 and left-sided hearing loss at age 20. At the age of 59, he presented with gait disturbance, and a large left cerebellopontine angle tumor was detected, which had markedly destroyed the pyramidal bone. The tumor was subtotally resected, but he required two more operations at the ages of 64 and 69 because of tumor regrowth. At the present time, recurrent tumor has destroyed the occipital bone and is invading the scalp. However, even though he has several cranial nerve palsies and cerebellar ataxia, he remains in stable condition and demonstrates long-term survival. The patient's surgical specimens revealed a papillary adenoma, which was recently thought to be of endolymphatic sac origin, although the origin of this kind of tumor, whether arising from the middle ear or from the endolymphatic sac, has not been established with certainty so far. In this paper, we provide further evidence that this tumor originates from the endolymphatic sac, based on anatomical, histopathological, and embryological evidence.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
7/47. A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial dna.We report three members of a family, who exhibited a phenotype similar to 'myoclonus epilepsy with ragged-red fibers' but had a genotype usually associated with 'mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes'. The patients, a 48-year-old female, and her two sons, aged 21 and 19 respectively, presented with photo-reactive syncopal episodes, disturbances of gait and writing, dysarthria and finger tremor since the 3rd and 2nd decade of life, respectively, that were accompanied also by numbness and weakness of the extremities. Subsequently, cerebellar ataxia and myoclonus were also noted. electromyography revealed both myogenic and neurogenic muscular changes, and nerve conduction studies demonstrated a sensory-motor neuropathy. biopsy showed ragged-red fibers with strongly stained SDH-positive vessels in skeletal muscles, and a marked loss of myelinated fibers of the sural nerves. Mitochondrial (mt) dna analyses of peripheral blood, muscles and nerves revealed that all members had a heteroplasmic np3271 (T-C) point mutation in the mitochondrial tRNA-Leu gene (UUR). This family is unique, in that all patients presented with a myoclonus epilepsy with ragged-red fibers-like phenotype and had a distinctive peripheral neuropathy, while the detected mtDNA 327l (T-C) mutation has been reported to date only in rare cases of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
8/47. cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation.BACKGROUND: Aceruloplasminemia, an autosomal recessive disorder that affects human iron metabolism, is caused by mutation of the ceruloplasmin gene. Heterozygous individuals with a partial ceruloplasmin deficiency may have normal iron metabolism and no clinical symptoms. methods: The authors clinically characterized three Japanese patients from two families who had cerebellar ataxia with hypoceruloplasminemia from the fourth decade of life. Genetic analysis, restriction fragment length polymorphism analysis, and a pathologic study were performed. RESULTS: All three patients presented with cerebellar dysfunction that included relatively nondisabling gait ataxia and dysarthria, as well as hyperreflexia. brain and abdomen MRI showed cerebellar atrophy and no low-signal intensities in the basal ganglia, thalamus, and liver. Direct mutational analysis excluded SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8, SCA-12, and DRPLA. The patients partially lacked serum ceruloplasmin, and the protein concentrations and ferroxidase activities ranged from 36% to 41% of the control values; moreover, they were heterozygous for a nonsense mutation of the ceruloplasmin gene (Trp858ter). serum iron concentration and transferrin saturation were normal. At autopsy, pathologic and biochemical examinations showed marked loss of purkinje cells, a large iron deposition in the cerebellum, and small depositions in the basal ganglia, thalamus, and liver. CONCLUSION: cerebellar ataxia reflects the site of iron deposition. Being heterozygous for mutation of the ceruloplasmin gene may result in cerebellar ataxia.- - - - - - - - - - ranking = 1keywords = gait (Clic here for more details about this article) |
9/47. 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 = 1keywords = gait (Clic here for more details about this article) |
10/47. High-dose piracetam is effective on cerebellar ataxia in patient with cerebellar cortical atrophy.We describe a patient with cerebellar ataxia of degenerative nature who was administered high-dose piracetam in a single-blind trial. piracetam was demonstrated to be highly effective on tandem gait and gait ataxia in daily doses of 60 g. We suggest piracetam has a potential anti-ataxic effect in human cerebellar ataxia when used in considerably higher doses than those indicated for other purposes.- - - - - - - - - - ranking = 2keywords = gait (Clic here for more details about this article) |
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