Journal of the neurological sciences
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The CACNA1A gene codes for the alpha(1A) pore-forming subunit of Ca(2+) voltage-gated Cav2.1 channels. CACNA1A mutations are responsible for Familial Hemiplegic Migraine (FHM) type 1, Episodic Ataxia (EA) type 2 and Spinocerebellar Ataxia type 6. The structure of the human gene includes, at present, 49 exons; however almost nothing is known about the 5' regulatory region, and there is now evidence suggesting the presence of additional exons at the 3' of the gene. ⋯ At the 3' end of the gene a new exon 48, followed by a strong poly-A signal, was identified as well as a new splice variant. The 5 bp insertion (g.38429_38430insCTTTT) in this exon was found in an EA patient. The two new regions can open the way for the study of human CACNA1A gene expression regulation and can be sites of mutations associated with FHM or EA phenotypes.
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We present 2 patients in whom the predominant neurological complication following lightning strike was spinal cord injury. One patient, who was followed for 5 years, showed clinical, electrophysiologic and MRI evidence of cervical spinal cord injury. ⋯ Follow-up several months later showed almost complete resolution of symptoms. These patients demonstrate that the prognosis of spinal cord injury complicating a lightning strike may not be uniformly poor.
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A number of patients with Parkinson's Disease (PD) complain of painful sensations that might be related not only to peripheral factors (muscle spasms, postural abnormalities) but also to an abnormal processing of nociceptive inputs in the Central Nervous System (CNS). To test this hypothesis, we recorded scalp CO(2) laser evoked potentials (LEPs) to foot skin stimulation in 11 pain-free treated PD patients affected by hemiparkinson (during the off state), in 6 pain-free drug-naïve hemiparkinsonian patients and in 11 healthy subjects. ⋯ ANOVA showed that the N2/P2 amplitude was significantly lower and pain rating significantly increased in treated PD patients than in controls in both the affected and unaffected sides, while in drug-naïve PD patients the reduction of the N2/P2 amplitude and the increase in pain rating were observed only in the affected side. These results suggest that in pain-free PD patients there is an abnormal nociceptive input processing that may be independent of the clinical expression of parkinsonian motor signs.
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Case Reports
Isolated facio-lingual hypoalgesia and weakness after a hemorrhagic infarct localized at the contralateral operculum.
Isolated facio-lingual hypoesthesia and weakness is rare. We describe a case of isolated facio-lingual hypoesthesia and weakness after a hemorrhagic infarct localized at the contralateral operculum. ⋯ Brain magnetic resonance imaging showed a subacute hemorrhagic infarct in the right frontal operculum, which spread slightly to the right temporo-parietal operculum. (123)IMP-SPECT showed hypoperfusion in the right fronto-temporo-parietal operculum, as detected by MRI, without apparent diaschisis within the brain. Neuroimaging findings for our patient suggested the involvement of the primary somatosensory-motor cortices (S1 and M1) and the secondary somatosensory cortex (S2), which receive trigemino-thalamo-cortical pathways.
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Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a clinically and genetically heterogeneous neurodegenerative disorder with genetic linkage to multi-loci. Recently pathogenic mutations in the KIAA1840 (now named SPG11) for SPG11, the major HSP-TCC locus, were identified; at least 42 different mutations have been detected. ⋯ This study widens the mutation spectrum of the SPG11 gene and the mutations in the SPG11 gene are also the major causative gene for HSP-TCC in the Chinese Hans. Screening of the whole gene is recommended in clinical practice.