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. 2017 Dec 11;3(6):e201.
doi: 10.1212/NXG.0000000000000201. eCollection 2017 Dec.

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome

Hugo Botha  1 , NiCole A Finch  1 , Ralitza H Gavrilova  1 , Mary M Machulda  1 , Julie A Fields  1 , Val J Lowe  1 , Ronald C Petersen  1 , Clifford R Jack Jr  1 , Christina M Dheel  1 , Debra J Gearhart  1 , David S Knopman  1 , Rosa Rademakers  1 , Bradley F Boeve  1
Affiliations

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome

Hugo Botha et al. Neurol Genet. .
No abstract available

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Figures

Figure 1
Figure 1. Results of imaging, neuropsychological and molecular analyses
(A) MRI (rows 1 and 2) and FDG-PET (rows 3–5) findings at presentation (age 61 years) and follow-up (ages 62 and 63 years). Note moderate-to-severe, asymmetric left frontal-temporal-parietal atrophy, with progression at follow-up, and relative hippocampal sparing. The same pattern is present on fludeoxyglucose PET (FDG-PET) imaging, with almost exclusively left-sided hypometabolism even at follow-up, and little-to-no anterior and medial temporal involvement. (B) Performance on key tests in the neuropsychological battery is shown graphically, with performance on each test displayed using the Mayo Older American Normative Studies (MOANS) standard score as reference. Scores at or below 6 are usually considered abnormal. Impaired performance was found on fluency measures, attention/executing control measures, and one of the visuospatial measures. (C) Plasma progranulin levels quantified by ELISA in controls (CN) and affected mutation carriers (GRN+). Values in CN (mean 46.53 ng/mL, SD 3.9 ng/mL) were significantly higher than those in GRN+ (mean 14.48 ng/mL, SD 1.38 ng/mL). The level in our case (23.9 ng/mL) is shown in red. AVLT = Auditory Verbal Learning Test; BNT = Boston Naming Test; CF = category fluency; DRS-2 = Dementia Rating Scale 2; GRN+ = progranulin mutation cases; JLO = judgment of line orientation; L = left; LF = letter fluency; R = right; TMT A = Trial Making Task Part A; TMT B = Trial Making Task Part B; WAIS-BD = Wechsler Adult Intelligence Scale Block Design; WAIS-DS = Wechsler Adult Intelligence Scale Digit Span; WMS-R LM = Wechsler Memory Scale–Revised Logical Memory.
Figure 2
Figure 2. Outline of family pedigree
Triangles represent individuals, and shaded triangles represent individuals affected by a degenerative disease. Triangles with diagonal lines through them represent deceased individuals. The proband is indicated by an asterisk. An elipsis in a triangle represents multiple unaffected offspring not shown to maintain confidentiality. One parent was diagnosed with Parkinson disease (II.2) and the other with dementia (II.3), both late in life. A sibling of the parent with dementia was diagnosed with Alzheimer disease dementia late in life (II.1). One of the patient's siblings was suspected elsewhere to have Pick disease (III.3), based on behavioral disturbance, aphasia, and cognitive impairment, and this person passed away in the early 60s. No postmortem examination was performed. Multiple other siblings were cognitively normal (all older than 45 years).
See this image and copyright information in PMC

References

    1. Yu CE, Bird TD, Bekris LM, et al. . The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol 2010;67:161–170. - PMC - PubMed
    1. Baker M, Mackenzie IR, Pickering-Brown SM, et al. . Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006;442:916–919. - PubMed
    1. Armstrong MJ, Litvan I, Lang AE, et al. . Criteria for the diagnosis of corticobasal degeneration. Neurology 2013;80:496–503. - PMC - PubMed
    1. Goldman JS, Farmer JM, Wood EM, et al. . Comparison of family histories in FTLD subtypes and related tauopathies. Neurology 2005;65:1817–1819. - PubMed
    1. Gass J, Cannon A, Mackenzie IR, et al. . Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 2006;15:2988–3001. - PubMed