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Case Reports
. 2008 Apr;65(4):506-13.
doi: 10.1001/archneur.65.4.506.

Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene

Jonathan D Rohrer  1 , Jason D Warren, Rohani Omar, Simon Mead, Jonathan Beck, Tamas Revesz, Janice Holton, John M Stevens, Safa Al-Sarraj, Stuart M Pickering-Brown, John Hardy, Nick C Fox, John Collinge, Elizabeth K Warrington, Martin N Rossor
Affiliations
Case Reports

Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene

Jonathan D Rohrer et al. Arch Neurol. 2008 Apr.

Abstract

Objective: To describe the clinical, neuropsychologic, and radiologic features of a family with a C31LfsX35 mutation in the progranulin gene CCDS11483.1).

Design: Case series.

Patients: A large British kindred (DRC255) with a PGRN mutation was assessed. Affected individuals presented with a mean age of 57.8 years (range, 54-67 years) and a mean disease duration of 6.1 years (range, 2-11 years).

Results: All patients exhibited a clinical and radiologic phenotype compatible with frontotemporal lobar degeneration based on current consensus criteria. However, unlike sporadic frontotemporal lobar degeneration, parietal deficits, consisting of dyscalculia, visuoperceptual /visuospatial dysfunction, and/or limb apraxia, were a common feature, and brain imaging showed posterior extension of frontotemporal atrophy to involve the parietal lobes. Other common clinical features included language output impairment with either dynamic aphasia or nonfluent aphasia and a behavioral syndrome dominated by apathy.

Conclusion: We suggest that parietal deficits may be a prominent feature of PGRN mutations and that these deficits may be caused by disruption of frontoparietal functional pathways.

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Figures

Figure 1
Figure 1
Pedigree of the DRC255 family. Circles represent females and squares males. Diamonds are anonymized individuals. Filled symbols represent affected family members.
Figure 2
Figure 2
Representative brain images in affected individuals (III.2 and III.11) Figs 2a,2b: Coronal T1 MR images showing asymmetrical right-sided fronto-temporo-parietal atrophy (III.2) Figs 2c, 2d: Coronal T1 MR images showing asymmetrical left-sided fronto-temporo-parietal atrophy (III.11)
Figure 2
Figure 2
Representative brain images in affected individuals (III.2 and III.11) Figs 2a,2b: Coronal T1 MR images showing asymmetrical right-sided fronto-temporo-parietal atrophy (III.2) Figs 2c, 2d: Coronal T1 MR images showing asymmetrical left-sided fronto-temporo-parietal atrophy (III.11)
Figure 3
Figure 3
Electropherogram traces from the first coding exon of PGRN in the reverse complement. (A) healthy population control DNA (B) patient III.3. Arrow indicates the presence of a c.90_91insCTGC mutation.
Figure 4
Figure 4
Histological features in case III.2. A = dentate fascia ubiquitin-positive inclusions; B = ubiquitin-positive neuronal cytoplasmic inclusions (NCI) and neurites in the frontal cortex; C & D = ubiquitin-positive neuronal intranuclear inclusions (NII) in the frontal cortex. The NII on C is of the lentiform type.
See this image and copyright information in PMC

References

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