Rinshō shinkeigaku = Clinical neurology
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Case Reports
[A case of medulla oblongata compression by tortuous vertebral arteries presenting with spastic quadriplegia].
We report a 58-year-old man showing spastic paraparesis due to medulla oblongata compression by tortuous vertebral arteries. He noticed weakness of both legs and gait disturbance at the age of 58 years and his symptoms progressively worsened during the following several months. General physical findings were normal. ⋯ Bilateral pyramidal tract signs without cranial nerve dysfunction due to compression of the medulla oblongata by tortuous vertebral arteries are extremely rare and clinically indistinguishable from hereditary spastic paraplegia (HSP). Although we did not perform a genetic test for HSP, we consider that the spastic paraparesis and mild lower-limb hypesthesia were caused by compression of the medulla oblongata by bilateral tortuous vertebral arteries based on the post-operative improvement in symptoms. Given the favorable effects of surgery, tortuous vertebral arteries should be considered in the differential diagnosis of patients presenting with progressive spastic paraparesis.
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Isaacs' syndrome is an antibody-mediated potassium channel disorder. Clinical symptoms of Isaacs' syndrome are characterized by muscle cramp, slow relaxation following muscle contraction, and hyperhidrosis. Hyperexcitability of the peripheral nerve cause these symptoms, which are relieved by administration of Na channel blockers and immunotherapy. ⋯ The "VGKC antibodies" are now usually known as VGKC-complex antibodies. In general, LGI-1 antibodies are most common in limbic encephalitis with SIADH. CASPR-2 antibodies are present in the majority of patients with Morvan syndrome.
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Deep brain stimulation (DBS) has been widely performed for various medically refractory movement disorders. For Parkinson disease (PD), target of DBS is subthalamic nucleus (STN) or globus pallidus internus (GPi). There are some evidences to demonstrate its effectiveness on motor function and QOL. ⋯ DBS of Vim thalamus has been indicated for intractable tremor with various etiologies. Recently posterior subthalamic area (PSA) is introduced as an alternative target to Vim for tremor. GPi DBS is also effective treatment option for generalized dystonia.
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Rehabilitation is essential for treatment of Parkinson's disease. New rehabilitation therapy is updated, in addition to evidence shown with "Parkinson's disease treatment guidelines 2011". Furthermore, a portable gait rhythmogram (acceleration sensor) is presented (not publication). ⋯ We also could examine consecutive changes of gait rhythm and detect freezing gait in patients. In this study, we could extract the characteristic of the parkinsonian gait and evaluate especially freeing events more objectively. This method may bring us to evaluate severity of parkinsonian gait not only in a consulting room but also daily profile even not to see directly, using the portable gait rhythmogram.
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Over the past decade, genome-wide association studies (GWASs) using common polymorphisms have been conducted to identify genetic risks associated with sporadic diseases. Although GWASs have successfully revealed numerous susceptibility genes for neurodegenerative diseases, the odds ratios associated with these risk alleles are generally low and account for only a small proportion of estimated familial clustering. ⋯ Using the clues provided by rare familial cases, we have recently identified strong genetic factors in Parkinson diseases and in multiple system atrophy based on the candidate gene approach. Focusing on the familial aggregation may be an efficient approach to identifying risk alleles of large effect sizes in apparently sporadic neurodegenerative diseases.