Frontal assessment battery and frontal atrophy in amyotrophic lateral sclerosis.

OBJECTIVES: To determine the potential utility of the frontal assessment battery (FAB) in assessing cognitive impairments in amyotrophic lateral sclerosis (ALS), we investigated the association between the FAB score and regional gray matter volume, and ascertained whether the regional brain alterations related to cognitive impairments occur in relatively mild stage of ALS. MATERIALS AND METHODS: Twenty-four ALS patients with a Mini-Mental State Examination score of >23, a normal score on the Self-Rating Depression Scale, little or no disturbance in speech and handling utensils on the ALS Functional Rating Scale (ALSFRS), and normal measures on respiratory tests (respiratory function test and arterial blood gas analysis), and two age-matched normal control groups (one for FAB assessment and the other for brain morphometry) underwent FAB testing and structural magnetic resonance imaging. We applied voxel-based morphometry to investigate the relationship between the FAB score and regional brain alteration, and assessed the relationship between the altered regional brain volume and ALSFRS or respiratory tests. RESULTS: Frontal assessment battery scores were significantly lower in ALS patients than in normal controls. Volume reduction in the right orbitofrontal gyrus in ALS was correlated with a lower FAB score. There was no correlation between the right orbitofrontal gyrus volume and ALSFRS or respiratory tests. CONCLUSIONS: The results suggest that the FAB is an adequate tool for detecting cognitive impairments related to frontal lobe pathology in the relatively mild stage of ALS, independent of physical dysfunctions.

Conduction velocities of Adelta-fibers and C-fibers in human peripheral nerves and spinal cord after CO2 laser stimulation.

Conduction velocities (CVs) in two nociceptive afferents were estimated to clarify the mechanism of pain transmission. Late and ultra-late laser evoked potentials (LEPs) were recorded by stimulating Adelta- and C-nociceptive nerve endings at different skin sites (the hand, foot, and skin overlying the 7th cervical and 12th thoracic vertebrae), by which data CVs of the arm (CVA), leg (CVL), and spinothalamic tract (CVSTT) were estimated. In late LEPs, Adelta-CVA and Adelta-CVL respectively were between 6.7 and 23.7 (mean +/- SD, 12.8 +/- 5.2) m/s, and 9.0 and 26.7 (17.2 +/- 5.6) m/s. Adelta-CVSTT was between 4.1 and 22.1 m/s (10.6 +/- 5.8). In ultra-late LEPs, C-CVA and C-CVL respectively varied between 1.0 and 2.1 (mean +/- SD, 1.5 +/- 0.3) m/s, and 1.0 and 1.9 (1.4 +/- 0.2) m/s. C-CVSTT was between 1.0 and 3.9 (1.8 +/- 0.8) m/s. No significant difference was found among CVA, CVL, and CVSTT values calculated from late or ultra-late LEP latencies. Nociceptive signals of the primary Adelta- and C-afferents therefore may be conveyed separately by myelinated (Adelta-) and unmyelinated (C) axons through peripheral nerves and spinal cord.

A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease.

A 34-year-old woman showed clinical features characteristic of Nasu-Hakola disease (NHD), also designated polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). The genetic analysis of the DAP12 gene (TYROBP) identified two heterozygous mutations composed of a previously reported single base deletion of 141G (141delG) in exon 3 and a novel single base substitution of G262T in exon 4, both of which are located on separate alleles. The protein sequence motif search indicated that both mutations encode truncated nonfunctional DAP12 polypeptides. This is the first case of NHD caused by compound heterozygosity for loss-of-function mutations in DAP12.