Sporadic Japanese case of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a de novo p.Phe849del mutation in CSF1R

2020 ◽  
Vol 8 (2) ◽  
pp. 96-98
Author(s):  
Kensuke Senzaki ◽  
Shiroh Miura ◽  
Masayuki Ochi ◽  
Takeaki Katoh ◽  
Yoko Okada ◽  
...  
Keyword(s):  
De Novo ◽  
Adult Onset ◽  
Axonal Spheroids ◽  
Japanese Case

scholarly journals Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Begona Sanchez-Lechuga ◽  
Muhammad Saqlain ◽  
Nicholas Ng ◽  
Kevin Colclough ◽  
Conor Woods ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Congenital Heart ◽  
De Novo ◽  
Adult Onset ◽  
Onset Diabetes ◽  
Adult Onset Diabetes ◽  
Pancreatic Agenesis

scholarly journals Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case report

2019 ◽  
Vol 14 (4) ◽  
pp. 514-517 ◽  
Author(s):  
Seongsu Kang ◽  
Da Mi Kim ◽  
In Ho Lee ◽  
Chang June Song
Keyword(s):  
Case Report ◽  
Adult Onset ◽  
Axonal Spheroids

Evaluation of CSF1R‐related adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria

2021 ◽  
Author(s):  
X Ayrignac ◽  
C Carra Dallière ◽  
P Codjia ◽  
K Mouzat ◽  
G Castelnovo ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Adult Onset ◽  
Axonal Spheroids

NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Neurology ◽  
2018 ◽  
Vol 91 (16) ◽  
pp. 755-757 ◽  
Author(s):  
Stefanie N. Hayer ◽  
Ilona Krey ◽  
Christian Barro ◽  
Franziska Rössler ◽  
Peter Körtvelyessy ◽  
...  
Keyword(s):  
Adult Onset ◽  
Axonal Spheroids

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

2016 ◽  
Vol 38 (1) ◽  
pp. 77-83 ◽  
Author(s):  
T. Konno ◽  
D.F. Broderick ◽  
N. Mezaki ◽  
A. Isami ◽  
D. Kaneda ◽  
...  
Keyword(s):  
Diagnostic Value ◽  
Adult Onset ◽  
Axonal Spheroids

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

2019 ◽  
Vol 35 (2) ◽  
pp. 106-110 ◽  
Author(s):  
Andrea Accogli ◽  
Judith St-Onge ◽  
Nassima Addour-Boudrahem ◽  
Joël Lafond-Lapalme ◽  
Alexandre Dionne Laporte ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cerebellar Ataxia ◽  
De Novo ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Adult Onset ◽  
Spinocerebellar Ataxias ◽  
Spectrin Repeat ◽  
Missense Variants ◽  
Pathogenic Variants

The term spinocerebellar ataxia encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying 2 major groups of ataxia: autosomal dominant cerebellar ataxias (ADCA, also known as spinocerebellar ataxias [SCAs]) due to heterozygous variants or polyglutamine triplet expansions leading to adult-onset ataxia, and autosomal recessive spinocerebellar ataxias (ARCAs, also known as SCARs) due to biallelic variants, usually resulting in more severe and earlier-onset cerebellar ataxia. Certain ataxia genes, including SPTBN2 which encodes β-III spectrin, are responsible for both SCA and SCAR, depending on whether the pathogenic variant occurs in a monoallelic or biallelic state, respectively. Accordingly, 2 major phenotypes have been linked to SPTBN2: pathogenic heterozygous in-frame deletions and missense variants result in an adult-onset, slowly progressive ADCA (SCA5) through a dominant negative effect, whereas biallelic loss-of-function variants cause SCAR14, an allelic disorder characterized by infantile-onset cerebellar ataxia and cognitive impairment. Of note, 2 heterozygous missense variants (c.1438C>T, p.R480 W; c.1309C>G, p.R437G), both lying in the second spectrin repeat of SPTBN2, have been linked to infantile-onset cerebellar ataxia, similar to SCAR14. Here, we report a novel de novo heterozygous pathogenic missense variant (c.1310G>A) in SPTBN2 in a child with infantile-onset cerebellar ataxia and mild cognitive impairment. This variant affects the same R437 residue of the second spectrin repeat but results in a different amino acid change (p.R437Q). We review previously reported cases and discuss possible pathomechanisms responsible for the early-onset cerebellar phenotype due to disease-causing variants in the second spectrin repeat.

scholarly journals Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Nicola Foulds ◽  
Reuben J. Pengelly ◽  
Simon R. Hammans ◽  
James A. R. Nicoll ◽  
David W. Ellison ◽  
...  
Keyword(s):  
Adult Onset ◽  
Axonal Spheroids

scholarly journals An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications

2013 ◽  
Vol 260 (10) ◽  
pp. 2665-2668 ◽  
Author(s):  
Shinsuke Fujioka ◽  
Daniel F. Broderick ◽  
Christina Sundal ◽  
Matthew C. Baker ◽  
Rosa Rademakers ◽  
...  
Keyword(s):  
Adult Onset ◽  
Axonal Spheroids

scholarly journals Amyloid-β PET and CSF in an autopsy confirmed cohort

2020 ◽  
Author(s):  
Juhan Reimand ◽  
Baayla D.C. Boon ◽  
Lyduine E. Collij ◽  
Charlotte E. Teunissen ◽  
Annemieke J.M. Rozemuller ◽  
...  
Keyword(s):  
Granulomatosis With Polyangiitis ◽  
Amyloid Β ◽  
Emission Tomography ◽  
Adult Onset ◽  
Type B ◽  
Memory Clinic ◽  
Axonal Spheroids ◽  
Positron Emission ◽  
Neuropathological Diagnosis

AbstractObjectiveAccumulation of amyloid-β is among the earliest changes in Alzheimer’s disease (AD). Amyloid-β positron emission tomography (PET) and Aβ42 in cerebrospinal fluid (CSF) both assess amyloid-β pathology in-vivo, but 10–20% of cases show discordant (CSF+/PET- or CSF-/PET+) results. The neuropathological correspondence with amyloid-β CSF/PET discordance is unknown.MethodsWe included 21 patients from our tertiary memory clinic who had undergone both CSF Aβ42 analysis and amyloid-β PET, and had neuropathological data available. Amyloid-β PET and CSF results were compared with neuropathological ABC scores (comprising of Thal (A), Braak (B) and CERAD (C) stage, all ranging from 0 [low] to 3 [high]) and neuropathological diagnosis.ResultsNeuropathological diagnosis was AD in 11 (52%) patients. Amyloid-β PET was positive in all A3, C2 and C3 cases and in one of the two A2 cases. CSF Aβ42 was positive in 92% of A2/A3 and 90% of C2/C3 cases. PET and CSF were discordant in 3/21 (14%) cases: CSF+/PET- in a patient with granulomatosis with polyangiitis (A0B0C0), CSF+/PET- in a patient with FTLD-TDP type B (A2B1C1), and CSF-/PET+ in a patient with AD (A3B3C3). Two CSF+/PET+ cases had a non-AD neuropathological diagnosis, i.e. FTLD-TDP type E (A3B1C1) and adult-onset leukoencephalopathy with axonal spheroids (A1B1C0).InterpretationOur findings confirm amyloid-β CSF/PET discordance with a range of possible reasons. Furthermore, amyloid-β biomarker positivity on both PET and CSF did not invariably result in an AD diagnosis at autopsy, illustrating the importance of considering relevant co-morbidities when evaluating amyloid-β biomarker results.

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