1,720,981 research outputs found
Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.
No full textBACKGROUND:
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2.
AIM:
We studied a 17-year-old boy who had features of IAHSP. We also reviewed the current literature on ALS2-related syndromes.
METHODS:
Clinical and neuroimaging studies were performed. Blood DNA analyses were combined with mRNA studies in cultured skin fibroblasts.
RESULTS:
Like previously described cases, the patient presented with severe spastic paraparesis and showed rapid progression of paresis to the upper limbs. He also developed bulbar involvement and severe scoliosis during childhood. In blood DNA we identified a novel splice-site homozygous mutation in ALS2 (c.3836+1G > T), producing exon skipping in fibroblast mRNA and predicting premature protein truncation.
CONCLUSIONS:
This case adds to the allelic heterogeneity of IAHSP. Review of the pertinent literature indicates a fairly homogeneous clinical picture in IAHSP that should facilitate molecular confirmation and prevention of long-term complications
IVIG inefficace in hypereosinophilic multineuropathy responding to steroide: a case report
No full text
Restless legs syndrome and periodic limb movements after ischemic stroke in the right lenticulostriate region
No full textWe report the first instance of restless legs syndrome (RLS) associated with periodic limb movements (PLM) and disruption of sleep architecture occurring in a patient following ischemic infarction in the right lenticulostriate region. Recently, a role for the basal ganglia-brainstem system in the control of motor behaviors and in the regulation of awake-sleep states has been proposed. The purported roles of these structures may be relevant in explaining the occurrence of the RLS in our patient. The discrete brain localization observed in this patient may be a clue to a better understanding of the pathophysiology of RLS and PLM. (C) 2007 Elsevier Ltd. All rights reserved
Restless legs syndrome and periodic limb movements after ischemic stroke in the right lenticulostriate region
No full textWe report the first instance of restless legs syndrome (RLS) associated with periodic limb movements (PLM) and disruption of sleep
architecture occurring in a patient following ischemic infarction in the right lenticulostriate region. Recently, a role for the basal
ganglia–brainstem system in the control of motor behaviors and in the regulation of awake–sleep states has been proposed. The
purported roles of these structures may be relevant in explaining the occurrence of the RLS in our patient. The discrete brain localization
observed in this patient may be a clue to a better understanding of the pathophysiology of RLS and PL
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