| 1. |
- Autti, Taina, et al.
(författare)
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Bone marrow transplantation in aspartylglucosaminuria : histopathological and MRI study
- 1999
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 30:6, s. 283-8
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Tidskriftsartikel (refereegranskat)abstract
- This study comprised two patients with aspartylglucosaminuria (AGU), who were followed up for 4 and 7 years. The patients underwent allogeneic bone marrow transplantation (BMT) at the ages of 2 and 2.6 years. Both patients had abnormal speech development and gross motor clumsiness. At the time of the BMT, they were mentally retarded. We report on follow-up data of these patients obtained by MRI, in addition to the histopathological, biochemical and clinical investigations. MR images of six non-transplanted patients and seven healthy children served as controls. In the non-transplanted patients, MRI revealed evident delay of myelination in contrast to the two transplanted patients showing fair or evident grey- vs. white matter differentiation on T2-weighted images. The aspartylglucosaminidase (AGA) activity in blood leukocytes reached a heterozygous level. Urinary excretion of aspartylglucosamine and glycoasparagines slowly decreased but remained about a third of the pre-BMT level 5 years after BMT. Storage lysosomes in electron microscopic investigations were not decreased 6 months after BMT, but after 1.5-2 years, rectal mucosa samples showed a decrease in the storage vacuoles of different cells. Three years after BMT, no cells with storage vacuoles were present. Allogeneic BMT slowly normalises the pathological, biochemical and MRI findings in patients with AGU.
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| 2. |
- Kristjánsdóttir, Ragnhildur, et al.
(författare)
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Disorders of the cerebral white matter in children. The spectrum of lesions.
- 1996
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 27:6, s. 295-8
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Tidskriftsartikel (refereegranskat)abstract
- The use of magnetic resonance imaging (MRI) has resulted in the detection of an increasing number of children with an apparently leukodystrophic white matter. Laboratory tests and the clinical presentation, however, often do not correspond to any known entity and the course is sometimes not progressively deteriorating. Such children with white-matter changes and no known diagnosis were the subject of this Swedish multicentre study, in which MRI findings and clinical data from 100 children considered to have white-matter abnormalities were assessed during the period 1992-1995. At re-evaluation of MR images by an established "white-matter group" of neuroradiologists, paediatric neurologists, neurologists and neurochemists, the MRI signal of the white matter was considered normal in eleven children and eleven had mainly a grey matter affection. Of the remaining 78 children with white matter abnormalities, a diagnosis was found in 32, but in 46 children no diagnosis could be established. A progressive downhill course characterised 17, probably representing hitherto undefined types of leukodystrophies. Five children had a relapsing-remitting course, and in 11 it was difficult to establish whether the course was progressive or stationary. The disease was non-progressive in 13. This group of non-leukodystrophic white-matter changes obviously represents maldevelopments of myelin formation, thus dys- or hypomyelination rather than demyelination.
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| 3. |
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| 4. |
- Syvänen, Ann-Christine, et al.
(författare)
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DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses
- 1997
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 28:1, s. 63-66
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Tidskriftsartikel (refereegranskat)abstract
- The recent identification of the genes and the mutations underlying infantile neuronal ceroid lipofuscinosis and juvenile onset neuronal ceroid lipofuscinosis facilitates specific DNA-based diagnostics for the disorders. We have developed a solid-phase minisequencing test for the identification of the major Finnish INCL mutation, an A to T transversion at nucleotide position 364 of the palmitoyl protein thioesterase gene on chromosome 1. This test has been applied for prenatal diagnosis and for identification of disease carriers in INCL families. For population-based screening for INCL carriers the coverage of the test would be 98%. In addition, by combining the solid-phase minisequencing test with whole genome preamplification, we have developed a procedure that allows reliable identification of the INCLFin-mutation in single blastomeres from in-vitro-fertilized embryos. This method is applicable for preimplantation diagnosis, and thus it offers an alternative to early prenatal diagnosis in the prevention of INCL. A modification of the solid-phase minisequencing test was devised for detection of the major INCL mutation, a 1.02 kb deletion in the CLN3 gene on chromosome 16. The coverage of this test for diagnosis of INCL and identification of carriers is 90% in Finland and > 80% worldwide.
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| 5. |
- Vanhanen, Sanna-Leena, et al.
(författare)
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Brain perfusion SPECT in infantile neuronal ceroid-lipofuscinosis (INCL) : Comparison with clinical manifestations and MRI findings
- 1996
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 27:2, s. 76-83
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Tidskriftsartikel (refereegranskat)abstract
- We studied brain perfusion in 19 patients with infantile neuronal ceroid-lipofuscinosis (INCL), aged 13 months to 11 years, using 99mTc-HMPAO single photon emission computed tomography (SPECT). SPECT findings were compared with clinical manifestations and MRI findings. The typical SPECT findings at an early stage of INCL were bilateral anterior frontal, posterior temporoparietal and occipital hypoperfusion. Initially cerebral hypoperfusion was localized and symmetrical, whereas atrophic findings were more generalized. Reduction in cerebellar perfusion appeared later, as did cerebellar atrophy. Progression from mild to severe cerebral and cerebellar hypoperfusion was rapid, corresponding to the clinical progression. However, the perfusion of deep grey matter structures (basal ganglia and thalami), although atrophic on MRI, was often well preserved up to the terminal stage. Severe perfusion defects in INCL, which appeared approximately at the age of four, were associated with grave clinical manifestations and neuropathologic findings. Particularly, the early SPECT perfusion abnormalities may assist in the differential diagnosis between INCL and other neurode-generative diseases.
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| 6. |
- Uvebrant, Paul, 1951, et al.
(författare)
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Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures.
- 1997
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Ingår i: Neuropediatrics. - 0174-304X. ; 28:1, s. 6-8
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Tidskriftsartikel (refereegranskat)abstract
- The epidemiology of neuronal ceroid lipofuscinoses (NCL) in Scandinavia was studied. For juvenile NCL 40 Swedish living patients were identified. The corresponding number for Finland was 61, for Norway 28, for Denmark 16 and for Iceland three. The prevalence of juvenile NCL was thus 4.6, 12.2, 6.5, 3.1 and 11 per million inhabitants in Sweden, Finland, Norway, Denmark, and Iceland, respectively. For calculating incidence the years 1976-85 were used. The incidence was 2.2 per 100,000 live births in Sweden, 4.8 in Finland, 3.7 in Norway, 2.0 in Denmark, and 7.0 in Iceland. Late infantile NCL was found in five Swedish children, including one variant form, CLN5. This gives a prevalence of about 0.6 per million. In Finland 13 cases gave a prevalence of 2.6 per million with the variant form in 80% of cases. In Norway, three children corresponded to a prevalence of 0.7 per million and one case in Iceland to 3.8 per million. No Danish cases were reported. As for infantile NCL, sixteen Swedish cases have been diagnosed during the 27-year period 1968-95, six are presently alive. This gives an estimated prevalence of 0.7 per million and an incidence of 0.6 per 100,000. The prevalence and incidence of infantile NCL in Finland were 5.4 per million and 5 per 100,000, respectively. The prevalence in Norway was 0.2 per million inhabitants. The variability of onset, clinical course and symptoms in the Swedish cases of juvenile and infantile NCL were analysed.
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