1/21. A large Japanese family with machado-joseph disease: clinical and genetic analysis.We report clinical and genetic studies on a large Japanese family with machado-joseph disease (MJD), in which various different clinical phenotypes were seen in the same family, i.e., cerebellar ataxia type, severe amyotrophy type, and young-onset parkinsonism type. In addition, patients with very mild symptoms (formes frustes) were encountered. The expansion of the CAG repeat at the MJD locus ranged from 64 to 71 in 7 affected and 4 presymptomatic individuals. In our family, no clear inverse correlation was noted between the length of CAG-expansion and the age of onset, or the clinical phenotypes. Hyporeflexia was a common manifestation seen in 5 patients. It has been reported that the presence of peripheral neuropathy in MJD is associated with smaller increase in the CAG repeats; findings in our family conform with this observation.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
2/21. Hyperreflexia in axonal guillain-barre syndrome subsequent to campylobacter jejuni enteritis.We describe a patient with the acute motor axonal neuropathy (AMAN) form of guillain-barre syndrome (GBS), who showed generalized hyperreflexia. A 24-year-old man developed acute paralysis following campylobacter jejuni enteritis. He showed exaggerated tendon reflexes with abnormal reflex spread to other segments, and was initially diagnosed as having post-infectious myelitis. Nerve conduction studies showed motor axonal degeneration (the AMAN pattern), and increased soleus h-reflex amplitudes. His serum was positive for IgG antibodies to gangliosides GM1b and GalNAc-GD1a. He was treated with plasmapheresis, resulting in rapid recovery. Hyperreflexia was still present 12 months after onset when muscle strength was completely normal. This case provides further evidence that patients with AMAN can develop increased motor neuron excitability, and possible mechanisms for the hyperreflexia are discussed.- - - - - - - - - - ranking = 0.0056012447606545keywords = paralysis (Clic here for more details about this article) |
3/21. Radiological and manometric diagnosis of cricopharyngeal dysphagia in a Japanese encephalitis survivor.Japanese encephalitis (JE) is endemic throughout most of the western Pacific region where taiwan is located. About half the survivors are left with neurological damages. We report a 55-year-old male who survived from JE and was left with sequela of parkinsonism and severe swallowing disorder. Later, it was proved to be cricopharyngeal dysphagia (CPD) using esophagogram and manometry, which disclosed involuntary hypertonic and hyperreflexic cricopharyngeal muscle contraction. CPD, a life-threatening neurological sequel of JE, has never been reported in the JE survivors before and possibly results from disseminated lesions over pyramidal and extrapyramidal systems.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
4/21. Treatment of gustatory hyperlacrimation (crocodile tears) with injection of botulinum toxin into the lacrimal gland.PURPOSE: To establish the efficacy and safety of botulinum toxin in the treatment of Crocodile Tear Syndrome and record any possible complications. methods: Four patients with unilateral aberrant VII cranial nerve regeneration following an episode of facial paralysis consented to be included in this study after a comprehensive explanation of the procedure and possible complications was given. On average, an injection of 20 units of botulinum toxin type A (Dysport) was given to the affected lacrimal gland. The effect was assessed with a Schirmer's test during taste stimulation. Careful recording of the duration of the effect and the presence of any local or systemic complications was made. RESULTS: All patients reported a partial or complete disappearance of the reflex hyperlacrimation following treatment. Schirmer's tests during taste stimulation documented a significant decrease in tear secretion. The onset of effect of the botulinum toxin was typically 24-48 h after the initial injection and lasted 4-5 months. One patient had a mild increase in his preexisting upper lid ptosis, but no other local or systemic side effects were experienced. CONCLUSIONS: The injection of botulinum toxin type A into the affected lacrimal glands of patients with gusto-lacrimal reflex is a simple, effective and safe treatment.- - - - - - - - - - ranking = 0.0056012447606545keywords = paralysis (Clic here for more details about this article) |
5/21. Sensory neuropathy in autosomal recessive juvenile parkinsonism (PARK2).Autosomal recessive juvenile parkinsonism (ARJP/PARK2) is a distinct clinical and genetic entity characterized by early-onset levodopa-responsive parkinsonism, foot dystonia, sleep benefit, and hyperactive tendon reflexes. We report a patient with genetically confirmed ARJP, who showed mild sensory disturbance and diminished deep tendon reflexes in the advanced stage. Nerve conduction studies revealed a sensory dominant neuropathy, which has not been described in ARJP. We suggest that peripheral neuropathy may occur in patients with advanced ARJP due to the loss of parkin protein function, although the function of parkin in the peripheral nervous system remains to be clarified.- - - - - - - - - - ranking = 6keywords = parkinsonism (Clic here for more details about this article) |
6/21. Idiopathic hemiparetic parkinsonism, a syndrome distinct from idiopathic parkinsonism.Two women had a syndrome of progressive parkinsonism with ipsilateral rigidity, mild resting tremor, paresis, hyperreflexia, and an extensor plantar response. Symptoms had started 24 and 3 months after a surgical procedure in the affected limb. neuroimaging studies were unhelpful. Both the parkinsonian features and the pyramidal tract signs responded well to dopaminergic drug treatment. We propose that the syndrome be called "idiopathic hemiparetic parkinsonism".- - - - - - - - - - ranking = 10keywords = parkinsonism (Clic here for more details about this article) |
7/21. Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
8/21. Parkinsonism following bilateral lesions of the globus pallidus: performance on a variety of motor tasks shows similarities with Parkinson's disease.OBJECTIVES: The authors report the results of detailed investigations into the motor function of a patient who, after a heavy drinking binge and subsequent unconsciousness, respiratory acidosis, and initial recovery, developed parkinsonism characterised by hypophonic speech and palilalia, "fast micrographia", impaired postural reflexes, and brady/akinesia in proximal (but not distal) alternating upper limb movements. methods: In addition to brain magnetic resonance imaging (MRI), different aspects of motor function were investigated using reaction time (RT) tasks, pegboard and finger tapping tasks, flex and squeeze tasks, movement related cortical potentials (MRCPs), and contingent negative variation (CNV). Cognitive function was also assessed. The results were compared to those previously reported in patients with Parkinson's disease (PD). RESULTS: brain MRI showed isolated and bilateral globus pallidus (GP) lesions covering mainly the external parts (GPe). These lesions were most probably secondary to respiratory acidosis, as other investigations failed to reveal an alternative cause. The results of the RT tasks showed that the patient had difficulties in preparing and maintaining preparation for a forthcoming movement. MRCP and CNV studies were in line with this, as the early component of the MRCP and CNV were absent prior to movement. The patient's performance on pegboard and finger tapping, and flex and squeeze tasks was normal when performed with one hand, but clearly deteriorated when using both hands simultaneously or sequentially. CONCLUSIONS: In general, the present results were similar to those reported previously in patients with PD. This provides further indirect evidence that the output of globus pallidus is of major importance in abnormal motor function in PD. The possible similarities of the functional status of GP in PD and our case are discussed.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
9/21. Labio-glosso-pharyngo-laryngeal paralysis caused by two brain lesions: cortical and subcortical.We report a case of labio-glosso-pharyngo-laryngeal paralysis with some peculiar features. CT and MRI yielded the diagnosis of acute pseudobulbar syndrome by demonstrating the existence of two lesions of the corticobulbar tract: one subcortical (recent) and the other opercular cortical (old) on the opposite side.- - - - - - - - - - ranking = 0.028006223803273keywords = paralysis (Clic here for more details about this article) |
10/21. Bilateral facial paralysis following ethylene glycol ingestion.Bilateral facial weakness, diminished hearing and dysphagia developed in a patient with a large overdose of ethylene glycol. Our case and two others previously reported draw attention to the fact that cranial nerve dysfunction, especially bilateral facial palsy, may occur in addition to encephalopathy, coma and renal failure with ethylene glycol ingestion.- - - - - - - - - - ranking = 0.022404979042618keywords = paralysis (Clic here for more details about this article) |
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