Engle reviews the congenital cranial dysinnervation disorders. These disorders appear to result from mutations in genes that are essential to the normal development or connectivity of cranial motoneurons. These genetic defects lead to disruption in early motoneuron development, aberrant axonal targeting onto motoneurons, and aberrant axonal targeting onto extraocular muscles.
In this elegant review, Noctor and colleagues describe recent advances in molecular and cell biology that have made possible the study of specific cell populations and 2 cortical progenitor cell types, radial glial cells in the ventricular zone and intermediate progenitor cells in the subvectricular zone, that have been shown to generate neurons in the embryonic cerebral cortex. These findings have refined our understanding of cortical neurogenesis with implications for understanding the etiology of neurodevelopmental disorders and their potential treatment.
This review by van de Ven et al indicates that identification of “threshold genes” and deciphering their function will help unravel the triggering mechanisms for migraine attacks. Familial hemiplegic migraine (FHM) is a rare monogenic subtype of migraine with aura. Three genes have been identified for familial hemiplegic migraine. Recently, knock-in mice have been generated carrying human pathogenic FHM1 mutations. This review emphasizes the importance that genetic migraine models will have in unraveling the triggering mechanisms of migraine attacks and identifying novel migraine prophylactic targets and therapies.
Schönberger and colleagues report evidence for the stable development of a wild-type X-linked adrenoleukodystrophy genotype and peroxisomal adrenoleukodystrophy protein expression in a great variety of human tissues following hematopoietic stem cell transplantation. It is an important therapeutic advance for patients with adrenoleukodystrophy. Editorial perspective is provided by Hugo W. Moser, MD, and Asif Mahmood, MD, MPH.
Ivanova et al studied the frequency and distribution of mutations in SPG3A in a cohort of 182 families with pure complex hereditary spastic paraplegia phenotypes that were negative for mutations in SPG4. In 12 probands (6.6%), they identified 12 different SPG3A mutations. Mutations in SPG3A represent an important cause of patients in the overall hereditary spastic paraplegia population. SPG3A is more often associated with a neuropathy than previously assumed. Thus, patients with a bipyramidal syndrome and a neuropathy should be screened for mutations in SPG3A.
Jankovic et al report that the transdermal system for rotigotine, a nonergolinic dopamine agonist, consistently demonstrated statistically significant and clinically relevant efficacy over placebo (Figure) for patients with early-stage Parkinson disease and was well tolerated.
Percentage change from baseline in Unified Parkinson Disease Rating Scale subtotal (parts II [activities of daily living] and III [motor function]) score during the 24-week maintenance phase in the rotigotine and placebo groups (P<.001 vs placebo). Visits 3 and 4, titration phase; visits 5 to 11, maintenance phase. *P<.001.
Eichler et al found that brain magnetic resonance imaging abnormalities in adult patients with adrenoleukodystrophy progress slower than reported in childhood. The involvement of the corticospinal tracts is prominent and may at times represent a variant course of progressive inflammatory demyelination.
Sicotte and colleagues found that in male patients with relapsing-remitting multiple sclerosis, testosterone gel treatment was associated with improvements in spatial and working memory performance and a slowing of brain atrophy. These findings suggest that testosterone treatment is safe and well-tolerated and has potential neuroprotective effects in men with relapsing-remitting multiple sclerosis.
In treating 48 patients with neurosarcoidosis, Scott et al report that among patients treated with immunosuppressive therapies, 18 (69%) improved, 4 (15%) remained stable, and 4 (15%) worsened. Of patients treated with corticosteroids alone, 7 (35%) improved, 11 (55%) remained stable, and 2 (10%) worsened. Most of these high-risk patients benefited from this therapeutic regimen.
Viehman and colleagues found in conducting urinalysis that the best single predictor for cardioembolic stroke subtype was a white blood cell count of greater than 14.5/μL followed by a red blood cell count of greater than 41.67/μL and a serum creatinine level greater than 1.08 mg/dL (>95.5 μmol/L). They concluded that urinalysis may have utility in the early identification of cardioembolic stroke subtype in patients with acute ischemic stroke.
Roquer and colleagues studied the influence that previous clinical expressions of systemic atherosclerosis may have on evolution and early mortality in patients with acute ischemic stroke. They found that previous symptomatic atherosclerotic disease evaluated by a simple clinical score is an independent predictor of early mortality in patients with first-ever ischemic stroke.
Galvin and colleagues used the AD8, a screening tool for dementia, combined with Word List Recall and showed that this approach improved the ability to detect the presence of dementia. The AD8 can be administered to an informant and, when combined with Word List Recall, is a powerful yet brief method of detecting cognitive impairment.
Galvin et al tested the ability of patients to rate their own cognitive ability using the AD8 compared with informant and clinician ratings of cognitive status. They found the AD8 is a brief measure that, when completed by an informant, differentiates nondemented from demented individuals. They also demonstrated that a self-completed AD8 differentiates nondemented from demented individuals. In the absence of reliable informants, the AD8 may provide an understanding of patients' perception of their cognitive status.
This Month in Archives of Neurology. Arch Neurol. 2007;64(5):626-627. doi:10.1001/archneur.64.5.626