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O4‐05‐05: Mild cognitive impairment of frontotemporal lobar degeneration subtypes: Clinical and imaging characteristics
Author(s) -
DomotoReilly Kimiko,
Sapolsky Daisy,
Negreira Alyson,
Brickhouse Michael,
Dickerson Brad
Publication year - 2012
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2012.05.1662
Subject(s) - frontotemporal lobar degeneration , dementia , primary progressive aphasia , atrophy , frontotemporal dementia , medicine , cohort , population , psychology , pathology , disease , environmental health
ined. Results: Her consciousness was alert. Her cognitive function was mildly affected: mini-mental state examination 27/30, frontal assessment battery 12/18, Montreal cognitive assessment 21/30, and geriatric depression scale 10/15. She had severe thermoanesthesia and hypoalgesia in lower limbs. Tendon reflexes showed generalized areflexia. Severe orthostatic hypotensionwas observed with changes of blood pressures from 115/80mmHg (lying) to 59/35mmHg (standing). The brain MRI showed neither cerebral atrophy nor abnormal signal intensities including diffusion weighted image. The NCS showed the compound muscle action potential in tibial nerves and the sensory nerve action potential of the sural nerve were not evoked. The sural nerve biopsy revealed moderate loss of myelinated fibers. The blood gas analysis showed respiratory acidosis with mild metabolic compensation (pH 7.35, PaCO2 57.5mmHg, PaO2 68.9mmHg, HCO331.1mmol/l). The eye drops test showedreduced response indicating the central autonomic failure. The heart-to-mediastinum ratio decreased to 1.99 in the early phase and 1.77 in the delayed phase of the 123I-MIBG scintigraphy. The sweating test showed general anhidrosis. The CSF 14-3-3 and tau proteins were elevated at 1,125̂I1⁄4g/ml and 2,994pg/ml, respectively. The prion gene analysis showed a 2 bp deletion in codon 178 that causes a premature stop codon and additional variable 25 amino acid at C-terminal from the mutation site.Conclusions: A novel prion gene mutation was found in 34-year-old female, which potentially caused the characteristic complex phenotype of the cognitive disturbance, peripheral neuropathy and pan-autonomic failure.