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  • 1
    Electronic Resource
    Electronic Resource
    Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings (2000)
    Springer
    Pediatric radiology 30 (2000), S. 748-755 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. The filamin-1 (FLN-1) gene is responsible for periventricular nodular heterotopia (PNH), which is an X-linked dominant neuronal migration disorder. Objective. To review the clinical and imaging findings in a series of patients with documented filamin-1 mutations.¶Materials and methods. A retrospective review of the medical records and MR studies of a series of patients with PNH and confirmed FLN-1 mutations was done. There were 16 female patients (age range: .67–71 years; mean = 28.6) with filamin-1 gene mutations. ¶Results. In six of the patients the same mutation was inherited in four generations in one pedigree. In a second pedigree, a distinct mutation was found in two patients in two generations. In a third pedigree, a third mutation was found in four patients in two generations. The remaining four patients had sporadic de novo mutations that were not present in the parents. Ten patients had seizures, and all patients had normal intelligence. In all 16 patients MR demonstrated bilateral near-continuous PNH. There were no consistent radiographic or clinical differences between patients carrying different mutations.¶Conclusion. Patients with confirmed FLN-1 gene mutations are usually female and have a distinctive MR pattern of PNH. Other female patients with this same MR pattern probably harbor FLN-1 mutations and risk transmission to their progeny. This information is important for genetic counseling.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470000312
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  • 2
    Electronic Resource
    Electronic Resource
    Clinical manifestations and evaluation of isolated lissencephaly (1993)
    Springer
    Child's nervous system 9 (1993), S. 387-390 
    Details
    ISSN: 1433-0350
    Keywords: Brain malformation ; Infantile spasms ; Lissencephaly ; Mental retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Lissencephaly (“smooth brain”) is a brain malformation characterized by a smooth cerebral surface, incomplete neuronal migration, and secondary abnormalities such as mental retardation, seizures, and minor facial dysmorphisms. Recent reports have produced evidence supporting several different causes including submicroscopic deletions in chromosome band 17p13.3, autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. We describe the clinical manifestations in seven patients with lissencephaly, and review pertinent studies regarding possible causes. The clinical manifestations were uniformly severe. All patients had severe mental retardation, hypotonia, often combined with spastic paralysis, and infantile spasms which did not respond to treatment. Most had poor growth, postnatal microcephaly, feeding problems, and frequent respiratory infections including pneumonia. None had other significant birth defects. Appropriate studies include computed tomography or magnetic resonance imaging (sometimes both), chromosome analysis, DNA analysis of the lissencephaly region on chromosome 17, electroencephalography and sometimes metabolic studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00306189
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations (1996)
    Springer
    Neuroradiology 38 (1996), S. 684-687 
    Details
    ISSN: 1432-1920
    Keywords: Key words Microcephaly ; Atrophy ; pontocerebellar
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report three patients with severe pontocerebellar atrophy (PCA) associated with a variable degree of cerebral atrophy. The clinical features consisted of progressive microcephaly, central hypotonia, visual impairment, abnormal eye movements and delayed psychomotor development. These are similar but not identical to the features of pontocerebellar hypoplasia type 2 described by Barth. The picture also differs from the classical form of autosomal dominant olivopontocerebellar atrophy. While in two patients the disease seemed to be genetic with highly suspicious autosomal recessive inheritance, the etiology in the third patient was probably nongenetic. We suggest that PCA is a morphologic entity with distinct radiologic features but variable clinical, pathophysiologic and etiologic backgrounds.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050334
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    Paper (German National Licenses)
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