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Biomedical subjects

C Solaro

Publications and source records attributed to C Solaro.

28 records · Page 2Linked to original sources

Gabapentin is effective in treating nocturnal painful spasms in multiple sclerosis.

In-patients with MS nocturnal spasms (NPS) occur frequently, primarily during the night and may influence the ability to and/or quality of sleep. We enrolled in an open label trial with GBP (up to 600 mg/day) 24 MS patients with NPS. We obtained patient reports of subjective discomfort at pre-treatment and following 2- (T1) and 8 weeks (T2), utilizing a 3-point analogue scale. Twenty of the 22 patients who completed the study reported resolution or amelioration of discomfort. Clinical improvement occurred 1 - 5 days following initial treatment. Three patients experienced adverse effects but completed the minimal follow-up period (2 weeks). Two patient dropped out of the study due to no compliance or adverse effects. A very low dose of GBP may be effective treatment for MS patients with NPS who may benefit from rapid improvement of discomfort with minimal risk of adverse effects.

Acetates↗

Dynamics of the reactivity to MBP in multiple sclerosis.

Though many lines of evidence support the importance of myelin basic protein (MBP) in the pathogenesis of experimental autoimmune encephalomyelitis (EAE), its role in multiple sclerosis (MS) is still debated as well as the significance of epitope spreading in disease progression. We characterised the response to MBP in eight MS subjects and three of these were followed over time. In one case, the follow up lasted over a 6-year period. Clonal expansion, clonal persistence and epitope spreading against other MBP determinants was detected irrespective of disease course. In one patient we identified a novel T-cell receptor variable gene (BV28S2) which may be involved in the selection of MBP determinants, as suggested by experiments performed in the presence of mismatched antigen presenting cells (APC) between two subjects compatible for HLA-DR2 subtype but differing for the epitope recognised. Our findings do not sustain a role for the response to MBP effecting on clinical course and suggest that a novel TCR gene may be involved in the recognition of unusual self antigens.

Amino Acid Sequence↗

A patient with multiple sclerosis and Down's syndrome with a rare paroxysmal symptom at onset.

Down's syndrome (DS) is often associated with autoimmune diseases, although an association with multiple sclerosis (MS) has not been previously reported. A 49-year-old male with DS experienced progressively worsening gait and bladder dysfunction. Following Poser criteria, the patient was diagnosed with laboratory-supported definite MS. Ten days following diagnosis the patient experienced dysestetic paroxysmal pain at the pelvic level (an uncommon complaint in MS) which was initially addressed with carbamazepine, resulting in mild relief and adverse effects consisting of increased motor deficit and decreased daytime alertness. A titration combination of lamotrigine and gabapentin, two relatively new antiepileptic drugs which have been utilized individually for a number of neurological symptoms, resulted in significant reduction in pain frequency and intensity, with no adverse effects. This case study presents details of the first reported association of DS and MS, between which the pathogenetic relationship remains unclear. The presence of a rare symptom complaint in MS, as well as the effective combination of lamotrigine and gabapentin for treating this symptom, without adverse effects is an additional interesting aspect of this case.

Acetates↗

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

The tau gene has been found to be the locus of dementia with rigidity linked to chromosome 17. Exonic and intronic mutations have been described in a number of families. Here we describe a P301S mutation in exon 10 of the tau gene in a new family. Two members of this family were affected. One individual presented with frontotemporal dementia, whereas his son has corticobasal degeneration, demonstrating that the same primary gene defect in tau can lead to 2 distinct clinical phenotypes. Both individuals developed rapidly progressive disease in the third decade. Neuropathologically, the father presented with an extensive filamentous pathology made of hyperphosphorylated tau protein. Biochemically, recombinant tau protein with the P301S mutation showed a greatly reduced ability to promote microtubule assembly.

Adult↗

Multiple sclerosis and non-communicating syringomyelia: a casual association or linked diseases?

Non-communicating syringomyelia (NCS) can be associated with different disease processes such as arachnoidytis, trauma or tumor. Approximately 12 cases, documented radiographically, of the association of non-communicating syringomyelia and multiple sclerosis (MS) have been described but their relationship remains obscure. In 3 patients with laboratory supported MS spinal magnetic resonance imaging (MRI) revealed a central cystic cavity. In 2 patients lesions on the spinal cord above the cavity were demonstrated. At 3-year follow-up in 1 patient, no change in the cavity was detected. Although 3 cases are insufficient for providing a definitive conclusion on the relationship between these two diseases, we suggest that demyelinating lesions have to be regarded as possible causes of spinal, asymptomatic cavities.

Adolescent↗

De novo status epilepticus as the presenting sign of neurosyphilis.

Although the incidence of seizures in neurosyphilis ranges from 14 to 60%, status epilepticus (SE) as a presenting complaint of neurosyphilis is definitely rare. A 44-year-old human immunodeficiency virus (HIV)-negative man with no history of epilepsy suddenly presented with acute mental confusion and was diagnosed as having a de novo complex partial nonconvulsive SE. Cerebrospinal fluid (CSF) findings, neuroimaging, and clinical course indicated that SE was the presenting symptom of an undiagnosed syphilitic meningovasculitis. The case is presented with a review of previous reports to emphasize the differential features and to underscore the importance of considering neurosyphilis among the possible causes of de novo SE.

Adult↗

An open-label trial of gabapentin treatment of paroxysmal symptoms in multiple sclerosis patients.

We conducted an open-label trial of gabapentin (GBP) as therapy for paroxysmal symptoms (PS) in 21 MS patients, including trigeminal neuralgia (6 patients), painful tonic spasms (11), dysesthetic or paresthetic symptoms (3) and ocular ataxia (1). Complete resolution of symptoms or partial improvement was obtained, respectively, in 14 and 4 of 18 patients who ended the study. Sustained improvement with minor side effects was obtained at dosages ranging from 600 to 1200 mg/d. Our findings suggest that GBP may be effective for PS in MS and warrant a further study in a double-blind placebo-controlled trial.

Acetates↗

Calcium sensitivity of BK-type KCa channels determined by a separable domain.

High conductance, Ca(2+)-activated (BK-type) K+ channels from mouse (mSlo) and Drosophila (dSlo) differ in their functional properties but share a conserved core resembling voltage-gated K+ channels and a tail appended to the core by a nonconserved linker. We have found that the channel subunit is physically divisible into these two conserved domains and that the core determines such properties as channel open time, conductance, and, probably, voltage dependence, whereas the tail determines apparent Ca2+ sensitivity. Both domains are required for function. We demonstrated the different roles of the core and tail by taking advantage of the functional differences between mSlo and dSlo. Heterologous pairing of cores and tails from mSlo and dSlo showed that single-channel properties were always characteristic of the core species, but that apparent Ca2+ sensitivity was adjusted up or down depending on the species of the tail. Thus, the tail is implicated in the Ca(2+)-sensing role of BK channels.

Amino Acid Sequence↗