1,721,029 research outputs found
Low rate repetitive nerve stimulation in Lambert-Eaton myasthenic syndrome: Peculiar characteristics of decremental pattern from a single-centre experience
No full textNo abstrac
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.
No full textAutosomal recessive spastic
ataxia of Charlevoix-Saguenay type
(ARSACS; MIM 270550) is characterized
by early-onset progressive
spastic ataxia, mild cognitive impairment,
axonal polyneuropathy,
predominant vermian atrophy at
brain MRI, and characteristic hypermyelinated
retinal nerve fibers
at fundoscopy [1, 2]. Mutations in
SACS, on chromosome 13q11 were
first identified in French-Canadian
patients [3]; subsequently extension
of molecular screening to
larger cohorts of patients led to the
identification of ARSACS worldwide
and also to broaden both its
genotypic and its phenotypic spectrum
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS
No full textNerve conduction studies of the sural nerve: Normative data from a single-center experience
No full textNo abstrac
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita
No full textWe aim to demonstrate the effect of mexiletine on the compound muscle action potential (CMAP) amplitude transitory depression (TD) in a cohort of patients with recessive myotonia congenita
An atypical case of acute disseminated encephalomyelitis associated with cytomegalovirus infection
No full textWe present the case of a young man admitted to our hospital for persistent headache associated with fever, retrorbitary pain and vomiting, who rapidly developed encephalopathy with drowsiness, paraplegia, hypoesthesia with a D6 sensory level and urinary retention. Brain and spinal cord MRI revealed findings compatible with acute disseminated encephalomyelitis (ADEM) and microbiological tests documented a cytomegalovirus (CMV) infection. CMV infection is extraordinarily associated with ADEM, but must be included in microbiological tests, because early diagnosis and treatment ameliorate the neurological outcome
Analysis of ryanodine receptor 1 (RyR1) and voltage-gated Ca2+ channel (VGCC) alpha1S subunit (Cav1.1) pre-mRNA splicing and correlation with intracellular calcium signals in myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2) myotubes.
No full textIntroduction. The pathogenesis of myotonic dystrophy type 1 (DM1) and type 2 (DM2) has been related to nuclear accumulation of RNAs containing expanded CUG and CCUG sequences, respectively, which sequester RNA-binding proteins, thus affecting in trans the alternative splicing of several genes. The evidence of increased intracellular Ca2+ ([Ca2+]i) levels documented in DM1 myotubes suggested that an altered Ca2+ homeostasis may contribute to the muscle pathology in myotonic dystrophy. Accordingly, aberrant splicing of ryanodine receptor 1 (RyR1) and sarcoplasmatic/endoplasmatic Ca2+-ATPase were found in DM1 muscle tissues.
However, data regarding RyR1 expression and intracellular Ca2+ handling in DM2 muscle tissues have not been reported.
Objectives. To determine whether the expression of RyR1 and voltage-gated Ca2+ channel (VGCC) alpha1s subunit (Cav1.1) genes in myotubes from DM1 and DM2 patients are associated with alteration of [Ca2+]i transients.
Methods. The mRNA processing of RyR1 and Cav1.1 in myotubes from healthy controls, DM1 and DM2 patients was studied by RT-PCR. [Ca2+]i transients induced by VGCC or RyR1 activation through stimulation with 100mM KCl or 20mM caffeine were studied by confocal Ca2+ imaging.
Results. Abnormal RyR1 splicing was found in DM1 but not in DM2 myotubes. On the other hand, Cav1.1 mRNA processing was normal in both muscle cultures.
In DM1 myotubes the mean amplitude of [Ca2+]i transients induced by KCl was greater than controls (6.6±1.4 vs. 5.7±1.9 ΔF/F, respectively, n=53, P<0.05), whereas in DM2 it was lower (3.7±1.4 ΔF/F, P<0.01). In both DM1 and DM2 myotubes Ca2+ released through RyRs after caffeine stimulation was lower than controls (-25 and -30%, respectively, P<0.01).
Conclusion. Our data suggest that [Ca2+]i transients induced by KCl and caffeine are altered in both myotonic dystrophies, but only in DM1 these alterations are related with RyR1 aberrant splicing
Persistence of abnormal electrophysiological findings after carpal tunnel release
No full textPractitioners may refer to experienced hand surgeons to differentiate a recurrence in carpal tunnel syndrome (CTS) from a failed carpal tunnel release. The patient may complain about the reappearance of symptoms, whatever is the cause. Nerve conduction studies (NCS) are often required by the practitioner to assist the final diagnosis. We observed abnormal values in NCS in patients who were clinically healed from CTS. We evaluated the changes preoperatively and, then, at 1, 3, 6, 9, and 12 month postoperatively. At the same time, we performed a retrospective study on a group of 37 clinically healed patients. Follow-up ranged from 2 to 20 years. Surgical treatment let the electrophysiological parameters to improve toward physiological values; however, normality is hardly ever reached. This sort of ''electrophysiological scar'' is true for all the parameters measured. In presence of CTS, the latency difference between the radial and median sensory nerve action potentials, recorded following thumb stimulation, produces a double peak shift. The ''double peak shift'' best described this ''electrophysiological scar,'' being a parameter that should measure about zero in the normal population. In conclusion, abnormal postoperative electrophysiological findings cannot substantiate the diagnosis of a poor outcome of a carpal tunnel release nor a recurrence of CTS
Admission neurophysiological abnormalities in Guillain-Barré syndrome: A single-center experience
No full textAlthough patients with Guillain-Barré syndrome (GBS) are often hospitalized few days after symptoms onset, nerve conduction studies (NCS) abnormalities in early phases of the disease are not well characterized. Our aim was to report early neurophysiological abnormalities from a cohort of GBS patients
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