Literature DB >> 24036850

An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders.

Shinsuke Fujioka1, Daniel F Broderick, Christina Sundal, Matthew C Baker, Rosa Rademakers, Zbigniew K Wszolek.   

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Year:  2013        PMID： 24036850      PMCID： PMC3865925          DOI： 10.1007/s00415-013-7093-x

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  13 in total

1.  Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.

Authors:  Christina Sundal; Shinsuke Fujioka; Jay A Van Gerpen; Christian Wider; Alexandra M Nicholson; Matt Baker; Elizabeth A Shuster; Jan Aasly; Salvatore Spina; Bernardino Ghetti; Sigrun Roeber; James Garbern; Alex Tselis; Russell H Swerdlow; Bradley B Miller; Anne Borjesson-Hanson; Ryan J Uitti; Owen A Ross; A Jon Stoessl; Rosa Rademakers; Keith A Josephs; Dennis W Dickson; Daniel Broderick; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2013-06-17       Impact factor: 4.891

2.  Subcortical calcification on CT in dural arteriovenous fistula with cortical venous reflux.

Authors:  T Metoki; S Mugikura; S Higano; M Ezura; Y Matsumoto; K Hirayama; S Takahashi
Journal:  AJNR Am J Neuroradiol       Date:  2006-05       Impact factor: 3.825

3.  CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia.

Authors:  M Mascalchi; C Gavazzi; M Morbin; G Giaccone; G Arnetoli; R Zappoli; O Bugiani
Journal:  AJNR Am J Neuroradiol       Date:  2006-05       Impact factor: 3.825

4.  Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.

Authors:  Christina Sundal; Jennifer Lash; Jan Aasly; Sarka Øygarden; Sigrun Roeber; Hans Kretzschman; James Y Garbern; Alex Tselis; Rosa Rademakers; Dennis W Dickson; Daniel Broderick; Zbigniew K Wszolek
Journal:  J Neurol Sci       Date:  2011-11-01       Impact factor: 3.181

5.  Intracranial calcification after cord blood neonatal transplantation for krabbe disease.

Authors:  A M Lehman; K R Schultz; K Poskitt; B Bjornson; R Keyes; P J Waters; L A Clarke; R Everett; D McConnell; S Stockler
Journal:  Neuropediatrics       Date:  2010-02-04       Impact factor: 1.947

Review 6.  [Mechanism of intracerebral calcification in hypoparathyroidism].

Authors:  Takuo Fujita
Journal:  Clin Calcium       Date:  2004-06

7.  Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations.

Authors:  Stefanie H Freeman; Bradley T Hyman; Katherine B Sims; E T Hedley-Whyte; Arastoo Vossough; Matthew P Frosch; Jeremy D Schmahmann
Journal:  Brain Pathol       Date:  2008-04-15       Impact factor: 6.508

8.  CSF1R mutations link POLD and HDLS as a single disease entity.

Authors:  Alexandra M Nicholson; Matt C Baker; Nicole A Finch; Nicola J Rutherford; Christian Wider; Neill R Graff-Radford; Peter T Nelson; H Brent Clark; Zbigniew K Wszolek; Dennis W Dickson; David S Knopman; Rosa Rademakers
Journal:  Neurology       Date:  2013-02-13       Impact factor: 9.910

9.  Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature.

Authors:  Jonathan D Marotti; Sharon Tobias; Jonathan D Fratkin; James M Powers; C Harker Rhodes
Journal:  Acta Neuropathol       Date:  2004-04-06       Impact factor: 17.088

10.  Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Authors:  Rosa Rademakers; Matt Baker; Alexandra M Nicholson; Nicola J Rutherford; NiCole Finch; Alexandra Soto-Ortolaza; Jennifer Lash; Christian Wider; Aleksandra Wojtas; Mariely DeJesus-Hernandez; Jennifer Adamson; Naomi Kouri; Christina Sundal; Elizabeth A Shuster; Jan Aasly; James MacKenzie; Sigrun Roeber; Hans A Kretzschmar; Bradley F Boeve; David S Knopman; Ronald C Petersen; Nigel J Cairns; Bernardino Ghetti; Salvatore Spina; James Garbern; Alexandros C Tselis; Ryan Uitti; Pritam Das; Jay A Van Gerpen; James F Meschia; Shawn Levy; Daniel F Broderick; Neill Graff-Radford; Owen A Ross; Bradley B Miller; Russell H Swerdlow; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Nat Genet       Date:  2011-12-25       Impact factor: 38.330
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  10 in total

1.  Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

Authors:  T Konno; D F Broderick; N Mezaki; A Isami; D Kaneda; Y Tashiro; T Tokutake; B M Keegan; B K Woodruff; T Miura; H Nozaki; M Nishizawa; O Onodera; Z K Wszolek; T Ikeuchi
Journal:  AJNR Am J Neuroradiol       Date:  2016-09-15       Impact factor: 3.825

Review 2.  CSF1R-related leukoencephalopathy: A major player in primary microgliopathies.

Authors:  Takuya Konno; Koji Kasanuki; Takeshi Ikeuchi; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Neurology       Date:  2018-11-14       Impact factor: 9.910

Review 3.  The Primary Microglial Leukodystrophies: A Review.

Authors:  Isidro Ferrer
Journal:  Int J Mol Sci       Date:  2022-06-06       Impact factor: 6.208

Review 4.  Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.

Authors:  Carmen Stabile; Ilaria Taglia; Carla Battisti; Silvia Bianchi; Antonio Federico
Journal:  Neurol Sci       Date:  2016-06-23       Impact factor: 3.307

5.  Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids.

Authors:  Josefine Blume; Robert Weissert
Journal:  J Mov Disord       Date:  2016-12-27

6.  MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.

Authors:  Takashi Abe; Toshitaka Kawarai; Koji Fujita; Wataru Sako; Yuka Terasawa; Tsuyoshi Matsuda; Waka Sakai; Ai Tsukamoto-Miyashiro; Naoko Matsui; Yuishin Izumi; Ryuji Kaji; Masafumi Harada
Journal:  Magn Reson Med Sci       Date:  2016-12-26       Impact factor: 2.471

Review 7.  Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.

Authors:  Rahul Lakshmanan; Matthew E Adams; David S Lynch; Justin A Kinsella; Rahul Phadke; Jonathan M Schott; Elaine Murphy; Jonathan D Rohrer; Jeremy Chataway; Henry Houlden; Nick C Fox; Indran Davagnanam
Journal:  Neurol Genet       Date:  2017-02-15

8.  CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification.

Authors:  Kensuke Daida; Kenya Nishioka; Yuanzhe Li; Sho Nakajima; Ryota Tanaka; Nobutaka Hattori
Journal:  Intern Med       Date:  2017-08-21       Impact factor: 1.271

Review 9.  Modeling CSF-1 receptor deficiency diseases - how close are we?

Authors:  Violeta Chitu; Şölen Gökhan; E Richard Stanley
Journal:  FEBS J       Date:  2021-07-05       Impact factor: 5.622

10.  Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Authors:  T Konno; K Yoshida; T Mizuno; T Kawarai; M Tada; H Nozaki; S-I Ikeda; M Nishizawa; O Onodera; Z K Wszolek; T Ikeuchi
Journal:  Eur J Neurol       Date:  2016-09-29       Impact factor: 6.089
  10 in total

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