Somatic Symptom Disorder in Semantic Dementia: The Role of Alexisomia.

BACKGROUND: Semantic dementia (SD) is a neurodegenerative disorder characterized by loss of semantic knowledge. SD may be associated with somatic symptom disorder due to excessive preoccupation with unidentified somatic sensations. OBJECTIVE: To evaluate the frequency of somatic symptom disorder among patients with SD in comparison to comparably demented patients with Alzheimer׳s disease. METHODS: A retrospective cohort study was conducted using clinical data from a referral-based behavioral neurology program. Fifty-three patients with SD meeting criteria for imaging-supported semantic variant primary progressive aphasia (another term for SD) were compared with 125 patients with clinically probable Alzheimer disease. Logistic regression controlled for sex, age, disease duration, education, overall cognitive impairment, and depression. RESULTS: The prevalence of somatic symptom disorder was significantly higher among patients with SD (41.5%) compared to patients with Alzheimer disease (11.2%) (odds ratio = 6:1; p < 0.001). Somatic symptom disorder was associated with misidentification and preoccupation with normal bodily sensations such as hunger, bladder filling, borborygmi, rhinorrhea, and reflux; excessive concern over the incompletely understood meaning or source of pain or other symptoms; and Cotard syndrome or the delusion that unidentified somatic symptoms signify death or deterioration. CONCLUSIONS: SD, a disorder of semantic knowledge, is associated with somatic symptom disorder from impaired identification of somatic sensations. Their inability to read and name somatic sensations, or "alexisomia," results in disproportionate and persistent concern about somatic sensations with consequent significant disability.

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is an extremely rare disorder related to the lysosomal storage disease, Farber lipogranulomatosis. Both disorders are autosomal recessive conditions caused by mutations in the ASAH1 gene encoding acid ceramidase. Farber disease is associated with joint deformities, lipomatous skin nodules, and often is fatal by 2-3 years of age; while SMA-PME is characterized by childhood-onset motor neuron disease and progressive myoclonic epilepsy. We report a case of SMA-PME with a novel mutation in the ASAH1 gene encoding acid ceramidase. The proband presented with childhood-onset of diffuse muscle atrophy and hypotonia. He also had diffuse weakness with greater proximal than distal involvement. Tongue fasciculations were present and his reflexes were either diminished or absent. He ambulated with an unsteady and hesitant gait. He subsequently developed myoclonic epilepsy along with other associated features including tremor, polymyoclonus, and sensorineural hearing loss. Neurophysiological studies revealed a motor neuron disorder and generalized epilepsy. Exome sequencing analysis identified compound heterozygous variants and biochemical analysis indicated acid ceramidase activity was approximately 12 percent of normal controls. Our proband was phenotypically similar to other cases of SMA-PME, albeit with somewhat lesser severity, slower progression, and greater longevity. As lysosomal disorders are sometimes amendable to early interventions, it is important to make early diagnoses in these cases. The combination of motor neuron disease and progressive myoclonic epilepsy should prompt genetic evaluation of ASAH1.

Suspecting optic neuritis, diagnosing Bartonella cat scratch disease.

BACKGROUND: Bartonella cat scratch disease is classically a febrile illness, in conjunction with lymphadenopathy and cat exposure. OBJECTIVE: To report 2 atypical cases of cat scratch disease with only blurred vision and headache. DESIGN: Case reports. SETTING: University hospital. PATIENTS: Two young adults with unilateral blurred vision, retro-orbital headache, and a positive Bartonella henselae serologic result, without fever or lymphadenopathy. MAIN OUTCOME MEASURES: Funduscopic examination and B henselae serologic findings. RESULTS: Both patients had optic disc swelling and a macular star on funduscopic examination, suggestive of infection. Infection was confirmed by positive serologic results. CONCLUSION: Cat scratch disease should be considered in the differential diagnosis for patients presenting with blurred vision and headache, even in the absence of fever, lymphadenopathy, or both.

Effect of bupropion treatment on brain activation induced by cigarette-related cues in smokers.

CONTEXT: Nicotine-dependent smokers exhibit craving and brain activation in the prefrontal and limbic regions when presented with cigarette-related cues. Bupropion hydrochloride treatment reduces cue-induced craving in cigarette smokers; however, the mechanism by which bupropion exerts this effect has not yet been described. OBJECTIVE: To assess changes in regional brain activation in response to cigarette-related cues from before to after treatment with bupropion (vs placebo). DESIGN: Randomized, double-blind, before-after controlled trial. SETTING: Academic brain imaging center. PARTICIPANTS: Thirty nicotine-dependent smokers (paid volunteers). INTERVENTIONS: Participants were randomly assigned to receive 8 weeks of treatment with either bupropion or a matching placebo pill (double-blind). MAIN OUTCOME MEASURES: Subjective cigarette craving ratings and regional brain activations (blood oxygen level-dependent response) in response to viewing cue videos. RESULTS: Bupropion-treated participants reported less craving and exhibited reduced activation in the left ventral striatum, right medial orbitofrontal cortex, and bilateral anterior cingulate cortex from before to after treatment when actively resisting craving compared with placebo-treated participants. When resisting craving, reduction in self-reported craving correlated with reduced regional brain activation in the bilateral medial orbitofrontal and left anterior cingulate cortices in all participants. CONCLUSIONS: Treatment with bupropion is associated with improved ability to resist cue-induced craving and a reduction in cue-induced activation of limbic and prefrontal brain regions, while a reduction in craving, regardless of treatment type, is associated with reduced activation in prefrontal brain regions.

Neural substrates of resisting craving during cigarette cue exposure.

BACKGROUND: In cigarette smokers, the most commonly reported areas of brain activation during visual cigarette cue exposure are the prefrontal, anterior cingulate, and visual cortices. We sought to determine changes in brain activity in response to cigarette cues when smokers actively resist craving. METHODS: Forty-two tobacco-dependent smokers underwent functional magnetic resonance imaging, during which they were presented with videotaped cues. Three cue presentation conditions were tested: cigarette cues with subjects allowing themselves to crave (cigarette cue crave), cigarette cues with the instruction to resist craving (cigarette cue resist), and matched neutral cues. RESULTS: Activation was found in the cigarette cue resist (compared with the cigarette cue crave) condition in the left dorsal anterior cingulate cortex (ACC), posterior cingulate cortex (PCC), and precuneus. Lower magnetic resonance signal for the cigarette cue resist condition was found in the cuneus bilaterally, left lateral occipital gyrus, and right postcentral gyrus. These relative activations and deactivations were more robust when the cigarette cue resist condition was compared with the neutral cue condition. CONCLUSIONS: Suppressing craving during cigarette cue exposure involves activation of limbic (and related) brain regions and deactivation of primary sensory and motor cortices.