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Kirschner and Bönnemann reviewed the outstanding progress in the areas of congenital muscular dystrophy (CMD) and limb girdle MD (LGMD) that has led to a better understanding of phenotype-genotype interrelationships. They concentrate on new molecular and biochemical findings that sharpen our focus and blur the boundaries of these CMD and LGMD phenotypes.
Tartaglia and colleagues studied levels of N-acetylaspartate (NAA), a marker of neuronal integrity, and the NAA/creatine ratio, and found that it is significantly lower in a high-fatigue group compared with a low-fatigue group of patients with multiple sclerosis. It is an important biological observation with direct clinical implications. Editorial perspective is provided by Michael K. Racke, MD, Kathleen Hawker, MD, and Elliot M. Frohman, MD, PhD.
Scatterplot showing the relationship between Fatigue Severity Scale (FSS) score and the N-acetylaspartate–creatine (NAA/Cr) ratio. Solid lines represent the linear regression fit across all subjects. Spearman rank correlation coefficient and Bonferroni-corrected P value are shown above the plot.
Spinocerebellar ataxia (SCA) 17 is an autosomal dominant ataxia due to the expansion of CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. Oda and colleagues () examined the minimum number of CAG/CAA repeats in the TBP gene that cause SCA17. In a careful clinical and molecular study, they found that 44 CAG/CAA repeats is the minimum number required to cause SCA17. Further data indicate that the TBP gene mutation may not be fully penetrant and that homozygosity of alleles will contribute to enhanced disease penetrance. Editorial perspective is provided by Shoji Tsuji, MD, PhD.
Goldman and colleagues emphasize the need to consider a genetic cause of prion diseases and early-onset Alzheimer disease regardless of the absence of a significant family history. The clinical examples are fascinating, and important lessons are learned.
Infratentorial lesions in patients with multiple sclerosis (MS) are related to making a long-term prognosis in patients initially diagnosed as having MS, as described by Minneboo et al). It is an important finding for the prediction of future disability and consideration of potential therapies.
Sastre-Garriga and colleagues studied clincially isolated syndromes (CIS) of the brainstem to determine the potential risk for conversion to multiple sclerosis (MS). Brainstem findings were important to predict conversion to MS, but their specificity was less compared with other groups of CIS.
Brain atrophy accounts for more variance than lesion burden in predicting cognitive loss in patients with multiple sclerosis (MS) as studied by Benedict and colleagues. Thalamic atrophy as part of deep central atrophy is an important component of brain atrophy. These findings offer new and important insights into cognitive loss in MS.
Boly et al provide an elegant and important study showing that in a minimally conscious state as compared with a persistent vegetative state there are clear and different patterns of auditory-evoked potentials. Their observations are significant to differentiate these 2 large groups of patients with altered consciousness and to provide a means to measure and follow-up long-term clinical outcomes.
Liver transplantation clearly improves cognitive function in patients with cirrhosis. The improvements are specific and improve attention and memoryabilities. The syndrome is a subtle one, and Mattarozzi and colleagues provide a compelling clinical and cognitive assessment of this group of patients.
Raskind and colleagues show that patients with Alzheimer disease (AD) who are treated with galantamine for 36 months had a significant slowing of their cognitive loss when compared with untreated patients. This is validation that galantamine has long-term benefits for patients with AD.
van de Warrenburg et al report that patients with autosomal dominant cerebellar ataxias have about a 70% occurrence of associated neuropathy, with varying types and degrees of involvement occurring in the various genotypes. This observation is important when evaluating and observing patients and families to understand and potentially treat specific neuropathic symptoms.
This Month in Archives of Neurology. Arch Neurol. 2004;61(2):174–175. doi:10.1001/archneur.61.2.174
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