Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.

Congenital fibre type disproportion (CFTD) is considered a non-progressive or slowly progressive muscle disease with relative smallness of type 1 fibres on pathological examination. Although generally benign, CFTD has a variable natural course and severe progression has been observed in some patients. The pathogenesis of the disorder is unknown and many authors consider CFTD a syndrome with multiple aetiologies rather than a separate clinical entity. A positive family history has been reported in about 40% of cases, but the inheritance pattern is not clear. Both autosomal recessive and dominant modes of inheritance have been suggested. The present paper describes a large, multigenerational kindred that has an inherited myopathy fulfilling the histological criteria of CFTD, with autosomal dominant transmission and high penetrance. The clinical picture, remarkably similar in all affected family members, started in early infancy with mild limb muscle weakness. There was slow progression of symptoms into adulthood, with moderate to severe, mainly proximal, muscle weakness without loss of ambulation. Muscle biopsy from two affected individuals demonstrated predominance of small type 1 muscle fibres without other significant findings. Nerve conduction studies were normal and needle electromyography showed a myopathic pattern. MRI examination performed on three patients from successive generations showed involvement of proximal limb and paraspinal muscles. The clinical and pathological homogeneity in the present family, together with the lack of additional histological abnormalities after decades of disease progression in two affected individuals, supports this being a distinct myopathy with fibre type disproportion. Whether the disease in this family can be regarded as a form of the congenital myopathy known as CFTD or rather a unique condition sharing histological features with CFTD needs further investigation. This is, to our knowledge, the largest kindred with muscle fibre type disproportion reported to date. Our data confirm autosomal dominant inheritance, and this is the first MRI document of this disorder.

[Neuropathies and sensory neuropathies]. / Neuropatías y neuronopatías sensitivas.

INTRODUCTION: In the recent years several clinical syndromes have been recognized that are purely sensory in character and therefore the site of lesion is seemingly restricted to nerve cell bodies in the posterior root ganglia. Collectively, these disorders are referred to as sensory neuronopathies. Although they may present as distinct clinical entities with different etiologies, the severity of the clinical manifestations and outcomes varies and may overlap with those of sensory neuropathy. This similarities are better understood in the case of toxic sensory neuropathies where a dose-dependent response has been clearly demonstrated; experimentally, low doses of pyridoxine induce sensory neuropathy whereas higher doses cause neuronopathy.

Neuropatías y neuronopatías sensitivas / Neuropathies and sensitive neuronopathies

Introducción. En los últimos años se han identificado varios síndromes cuya característica esencial es su carácter puramente sensitivo, por lo que se supone que su origen está en una alteración de las neuronas del ganglio raquídeo posterior. Por ello se denominan, colectivamente, neuronopatías sensitivas. Aunque sus formas de presentación son peculiares para cada entidad, existe un cierto grado de superposición en las manifestaciones clínicas y en la evolución. Ello es muy probablemente debido a un efecto dosisdependiente que ha sido demostrado experimentalmente en el caso de la piridoxina: dosis medias pueden causar neuropatía y dosis mayores neuronopatía (AU)

Value of immunologic testing in stroke patients. A prospective multicenter study.

BACKGROUND AND PURPOSE: The aims of this prospective and multicenter study were to determine the frequency of anticardiolipin and antinuclear antibodies in an unselected ischemic and hemorrhagic stroke population and to evaluate the clinical significance of these autoantibodies. METHODS: Over a 1-year period, we collected plasma from 481 consecutive patients with ischemic or hemorrhagic stroke attending four different hospitals. Blood (10 mL) was drawn from each subject into a citrated glass tube. Plasma was obtained immediately by centrifugation and was stored at -70 degrees C until use. Concentrations of IgM and IgG anticardiolipin antibodies were measured at room temperature in normal (not heat-treated) plasma by standardized enzyme-linked immunosorbent assay. All sera were treated by indirect immunofluorescence on mouse liver and kidney sections for antinuclear antibodies. RESULTS: A total of 481 patients (325 men, 156 women) 16 to 90 years in age (mean age, 61 years) were studied. Anticardiolipin antibodies were present in 5 of 481 (1.04%) patients. One patient was IgG positive and four patients were IgM positive. Of 481 patients, 35 (7.2%) were positive for antinuclear antibodies. Anti-DNA antibodies were not demonstrable in any patient. CONCLUSIONS: The frequency of anticardiolipin antibodies in a heterogeneous stroke population is possibly lower than reported. The routine screening of anticardiolipin and antinuclear antibodies in a stroke population is of questionable value.