30 research outputs found
Electrodiagnostic studies in Guillain-Barre syndrome
The Guillain-Barre syndrome (GBS) is a monophasic (sub)acute inflammatory
demyelinating predominantly motor polyradiculo-neuropathy. Clinical criteria
have been proposed by Asbury (Asbury et aI., 1978; Asbury and Cornblath, 1990).
GBS is a selflimiting disease, however, up to 30% of the patients may need
temporary artificial ventilation; about 15% remain disabled and mortality is estimated
to be up to 5%. Therefore, GBS must be regarded as a serious disease.
Plasma exchange (PE) and more recently high dose immune globulins ([vIg) have
been proved to be succesful in shortening the duration of the disease, the duration
of artificial ventilation and to improve outcome at 6 months (GBS study group, 19-
85; van del' Meche et aI., 1992; French cooperative group, 1992). In contrast to
immune globulin therapy, plasma exchange is not always possible for haemodynamic
reasons. In addition it is generally not feasible in children, not in all hospitals
available, and is in general rather cumbersome. Therefore in the multicentre Dutch
Guillain-Barn: Study the effectiveness of immune globulins versus plasma exchange
was evaluated in 150 patients, with a main aim to demonstrate at least equal
efficacy. This study revealed therapeutic effectiveness of both therapies with a
limited but significant superiority of immune globulins over plasma exchange (van
del' Meche et aI., 1992).
[n the Dutch Guillain-Barre trial each patient was tested electrodiagnostically three
times in an early stage of the disease according to a rigid protocol. The results of
these electro diagnostic studies are the subject of this thesis
Chronic motor neuropathies: response to interferon-beta1a after failure of conventional therapies
OBJECTIVES: The effect of interferon-beta1a (INF-beta1a; Rebif) was
studied in patients with chronic motor neuropathies not improving after
conventional treatments such as immunoglobulins, steroids,
cyclophosphamide or plasma exchange. METHODS: A prospective open study was
performed with a duration of 6-12 months. Three patients with a multifocal
motor neuropathy and one patient with a pure motor form of chronic
inflammatory demyelinating polyneuropathy were enrolled. Three patients
had anti-GM1 antibodies. Treatment consisted of subcutaneous injections of
IBF-beta1a (6 MIU), three times a week. Primary outcome was assessed at
the level of disability using the nine hole peg test, the 10 metres
walking test, and the modified Rankin scale. Secondary outcome was
measured at the impairment level using a slightly modified MRC sumscore.
RESULTS: All patients showed a significant improvement on the modified MRC
sumscore. The time required to walk 10 metres and to fulfil the nine hole
peg test was also significantly reduced in the first 3 months in most
patients. However, the translation of these results to functional
improvement on the modified Rankin was only seen in two patients. There
were no severe adverse events. Motor conduction blocks were partially
restored in one patient only. Anti-GM1 antibody titres did not change.
CONCLUSION: These findings indicate that severely affected patients with
chronic motor neuropathies not responding to conventional therapies may
improve when treated with INF-beta1a. From this study it is suggested that
INF-beta1a should be administered in patients with chronic motor
neuropathies for a period of up to 3 months before deciding to cease
treatment. A controlled trial is necessary to confirm these findings
A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with GerstmannâStrĂ€usslerâScheinker disease phenotype: comparison with similar cases from the literature
Human prion diseases can be sporadic, inherited or acquired by infection and show considerable phenotypic heterogeneity. We describe the clinical, histopathological and pathological prion protein (PrPSc) characteristics of a Dutch family with a novel 7-octapeptide repeat insertion (7-OPRI) in PRNP, the gene encoding the prion protein (PrP). Clinical features were available in four, neuropathological features in three and biochemical characteristics in two members of this family. The clinical phenotype was characterized by slowly progressive cognitive decline, personality change, lethargy, depression with anxiety and panic attacks, apraxia and a hypokinetic-rigid syndrome. Neuropathological findings consisted of numerous multi- and unicentric amyloid plaques throughout the cerebrum and cerebellum with varying degrees of spongiform degeneration. Genetic and molecular studies were performed in two male family members. One of them was homozygous for valine and the other heterozygous for methionine and valine at codon 129 of PRNP. Sequence analysis identified a novel 168Â bp insertion [R2âR2âR2âR2âR3gâR2âR2] in the octapeptide repeat region of PRNP. Both patients carried the mutation on the allele with valine at codon 129. Western blot analysis showed type 1 PrPSc in both patients and detected a smaller ~8Â kDa PrPSc fragment in the cerebellum in one patient. The features of this Dutch kindred define an unusual neuropathological phenotype and a novel PRNP haplotype among the previously documented 7-OPRI mutations, further expanding the spectrum of genotypeâphenotype correlations in inherited prion diseases