Volume 30, No. 3/2011(May/June)
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 Clinical Neuropathology
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Editorial
Clinical Neuropathology, Vol. 30 – No. 3/2011
J.A. Hainfellner
Abstract
Clinical Neuropathology, Vol. 30 – No. 3/2011
J.A. Hainfellner
Original contribution
Oculopharyngeal muscle dystrophy: fine structure and mRNA expression levels of PABPN1
J.M. Schröder, T. Klossok and J. Weis
Abstract
Clinical Neuropathology, Vol. 30 – No. 3/2011 (94-103)
Oculopharyngeal muscle dystrophy: fine structure and mRNA expression levels of PABPN1
J.M. Schröder, T. Klossok and J. Weis
Department of Neuropathology, University Hospital, RWTH Aachen, Germany
Objective: The underlying molecular mechanism leading to the OPMD causing mutation in the PABPN1 gene has not been elucidated so far. Two models are under consideration: the first model is the polymerase slippage mechanism. The second model is unequal crossing over. The aim of the present study is to correlate clinical, fine structural, and molecular genetic data. Material and methods: In 6 cases of OPMD, confirmed by electron microscopy, we analyzed mutations in exon 1 of the polyadenine binding protein nuclear1 (PABPN1) gene on chromosome 14q11.1 using DNA isolated from biopsied muscle tissue. Furthermore, the corresponding mRNA from frozen biopsies was analyzed. Results: In addition to the usual expansion of the (GCG)6 sequence to the well known (GCG)8–13 trinucleotide repeats in 5 of the patients, we detected a novel (GCA)2(GCG) insertion in one patient. This mutation favors a pathomechanism of “unequal crossing over” instead of a “polymerase slippage” model. Tubulofilamentous (8.5 nm) nuclear inclusions were especially prominent in an isolated nucleus of a nuclear clump in a severely atrophic muscle fiber. However, no correlation was found between muscle weakness, the frequency of repeats, and the frequency and size of nuclear inclusions. Conclusions: Muscle weakness was not obviously correlated to the number of repeats, but it is suggested that it might be linked to an increase of the transcription rate representing the ratio between mutated versus normal RT-PCR products.Correspondence to:
Univ.-Prof. Dr. med. J.M. Schröder
Department of Neuropathology
RWTH Aachen University Hospital
Pauwelsstr. 30, 52074 Aachen, Germany
Email: jmschroder@ukaachen.de
Original contribution
Differential degeneration of the locus coeruleus in dementia subtypes
H. Brunnström, N. Friberg, E. Lindberg and E. Englund
Abstract
Clinical Neuropathology, Vol. 30 – No. 3/2011 (104-110)
Differential degeneration of the locus coeruleus in dementia subtypes
H. Brunnström, N. Friberg, E. Lindberg and E. Englund
Department of Pathology, Lund University and Regional Laboratories Region Skåne, Lund, Sweden
Objective: Neuronal loss in the locus coeruleus (LC) is common in Alzheimer’s disease (AD), dementia with Lewy bodies (DLB) and Parkinson’s disease dementia (PDD). The aims of the present study were to investigate LC degeneration in different dementia disorders including vascular dementia (VaD) and frontotemporal lobar degeneration (FTLD), to compare LC degeneration with severity of pathology in AD and DLB/PDD, to further evaluate the usefulness of a previously presented scoring system and to examine the predictive value of macroscopic assessment of the LC. Methods: A horizontal mid-level section of the pons was examined in 200 neuropathologically examined cases with clinical dementia. A previous macroscopic assessment of the LC was performed in 149 of the cases. Results: Cases with DLB/ PDD and AD presented with the highest microscopic LC degeneration scores, with significant differences compared to combined AD + VaD, in turn with a higher score than VaD, FTLD and other dementia disorders. Interrater agreement (weighted kappa;) for LC degeneration scoring was 0.83 – 0.91. DLB/ PDD, AD and AD + VaD were the diagnoses for 85% of the cases with macroscopic LC depigmentation. Conclusion: LC degeneration, which may be macroscopically noted, often indicates synuclein and/or Alzheimer pathology among demented. When clinical information is scarce or inconsistent, a macroscopic assessment of the LC may facilitate focusing of the subsequent neuropathological investigation. Also, the semiquantitative scoring system is a reliable tool for histological assessment of LC degeneration.Correspondence to:
H. Brunnström, MD
Department of Pathology
Regional Laboratories Region Skåne
22185 Lund, Sweden
Email: hans.brunnstrom@med.lu.se
Original contribution
Concomitant CNS pathology in a patient with amyotropic lateral sclerosis following poliomyelitis in childhood
M. Casula, K. Steentjes, E. Aronica, B.M. van Geel and D. Troost
Abstract
Clinical Neuropathology, Vol. 30 – No. 3/2011 (111-117)
Concomitant CNS pathology in a patient with amyotropic lateral sclerosis following poliomyelitis in childhood
M. Casula1, K. Steentjes2, E. Aronica1, B.M. van Geel2 and D. Troost1
1Department of (Neuro) Pathology, Academic Medical Center, University of Amsterdam, and 2Department of Neurology, Medisch Centrum Alkmaar, The Netherlands
Post-polio syndrome (PPS) develops in approximately 30% of polio survivors several decades after the acute attack of paralytic poliomyelitis. Some of these patients develop post-poliomyelitis muscular atrophy (PPMA) which is characterized by a slowly progressive muscle weakness. Due to its clinicopathological features, investigators have often studied PPS and PPMA in association with amyotrophic lateral sclerosis (ALS), the underlying hypothesis being an increased risk of developing ALS from a prior acute paralytic poliomyelitis. Various studies, however, have indicated that de novo ALS cases in patients with prior acute paralytic poliomyelitis are rare. Herein, we describe a rare case of a 75-year-old woman who at post-mortem examination presented a combination of a PPS with proven histopathological sporadic ALS features. Furthermore, neuropathology of this case also revealed several other histopathological findings reminiscent of a tauopathy, synucleinopathy and amyloid angiopathy and a large pituitary cyst. To our knowledge, this is the first reported case of PPS with clear pathological hallmarks of sporadic ALS, including ubiquitin-, TDP-43, phosphorylated TDP-43- and p62-positive inclusions, with accompanying features compatible with Alzheimer’s and Parkinson’s disease.Correspondence to:
D. Troost
Department Neuropathology
Academic Medical Center
Meibergdreef 9
1105 AZ Amsterdam, The Netherlands
Email: d.troost@amc.uva.nl
Original contribution
Angiolipoma in sellar, suprasellar and parasellar region: report on two new cases and review of literature
N. Ghosal, S.V. Furtado, N.A. Saikiran, K. Gupta and A.S. Hegde
Abstract
Clinical Neuropathology, Vol. 30 – No. 3/2011 (118-121)
Angiolipoma in sellar, suprasellar and parasellar region: report on two new cases and review of literature
N. Ghosal1, S.V. Furtado2, N.A. Saikiran2, K. Gupta3 and A.S. Hegde2
1Department of Pathology and Transfusion Medicine, 2Department of Neurosurgery and 3Department of Radiology, SSSIHMS, Bangalore, India
Angiolipomas of CNS are very rare; more than 90% involve the spinal canal. There are only a few case reports documenting the tumor in the sellar/suprasellar region. We report 2 cases of angiolipoma involving sellar/suprasellar and right parasellar region in two female patients. On histopathology the lesion was composed of vascular component which was of cavernous type in one patient and of capillary caliber in the other with admixture of mature adipocytes. The MRI findings were distinctive as the lesion was predominantly iso-to-hypointense on T1W sequence, hyperintense on T2WI and FLAIR sequence. In addition, a few small hyperintense areas were noted on plain T1W images which may represent intralesional fat. One of the cases also showed lipid lactate peak on MR spectroscopy. To the best of our knowledge only 8 other cases of sellar, parasellar angiolipomas have been reported in indexed literature. MRI with fat suppression sequences should be routinely performed in lesions in such locations with hyperintense areas on T1WI as the incidence of intraoperative blood loss is very high. A preoperative suspicion of the diagnosis might help in reducing the patient morbidity.Correspondence to:
Dr. N. Ghosal
Additional Senior Consultant
Department of Pathology and Transfusion Medicine
SSSIHMS, EPIP Area, Whitefield, Bangalore, India
Email: nandita.g@rediffmail.com
Abstracts
Joint Meeting: :XLVII. Congress of the Italian Association of Neuropathology (AINP), XXXVII. Congress of Italian Association for Research on Brain Aging (AIRIC), Genova, Italy, May 19 – 21, 2011
Abstract
Clinical Neuropathology, Vol. 30 – No. 3/2011 (122-148)
Joint Meeting: :XLVII. Congress of the Italian Association of Neuropathology (AINP), XXXVII. Congress of Italian Association for Research on Brain Aging (AIRIC), Genova, Italy, May 19 – 21, 2011
Letter to the Editor
Spinal solitary fibrous tumor mimicking hemangioma
M. Kirkbride, K. Heitman and A. Szallasi
Abstract
Spinal solitary fibrous tumor mimicking hemangioma
M. Kirkbride, K. Heitman and A. Szallasi
Letter to the Editor
Primary B-cell lymphoma of choroid plexus in a 30-year-old immunocompetent male
M. Rumana, A. Kirmani, N. Khursheed, S. Naseer, M. Rayees and M.B. Khalil
Abstract
Primary B-cell lymphoma of choroid plexus in a 30-year-old immunocompetent male
M. Rumana, A. Kirmani, N. Khursheed, S. Naseer, M. Rayees and M.B. Khalil
Letter to the Editor
Primary intracranial leiomyosarcoma in an immunocompetent patient
M. Almubaslat, J.C. Stone, L. Liu and Z. Xiong
Abstract
Primary intracranial leiomyosarcoma in an immunocompetent patient
M. Almubaslat, J.C. Stone, L. Liu and Z. Xiong
Euro-CNS News
Society News of the European Confederation of Neuropathological Societies
Abstract
Society News of the European Confederation of Neuropathological Societies
