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This Month in Archives of Neurology
June 2011

This Month in Archives of Neurology

Arch Neurol. 2011;68(6):705-706. doi:10.1001/archneurol.2011.112
Translational Research in Neurology and Neuroscience 2011: Movement Disorders

Klein and colleaguesArticle provide an update on the state of translational research in movement disorders, using examples of Huntington disease (HD), Parkinson disease (PD), and dystonia. While substantial progress in our understanding of these disorders has been achieved, development of neuroprotective treatments remains an unrealized goal. Here they highlight some of the emerging research areas that show most promise for translational research in HD, PD, and dystonia. Aetiology and pathogenesis, biomarker directions, and causal treatment opportunities are discussed for each disease, followed by a brief discussion drawing attention to important translational initiatives.

Movement Disorders Emergencies Part 2: Hyperkinetic Disorders

Robottom et alArticle provide a diagnostic approach to the recognition and treatment of hyperkinetic movement disorders emergencies by first identifying phenomenology and reviewing common etiologies.

Population-Based Analysis of Morbidity and Mortality Following Surgery for Intractable Temporal Lobe Epilepsy in the United States

McClelland and colleaguesArticle report that morbidity following anterior temporal lobectomy (ATL) for temporal lobe epilepsy (TLE) is low throughout the United States regardless of sex, race, insurance status, or income. Younger age and private insurance status are independently predictive of reduced postoperative morbidity. In patients with low medical comorbidity, ATL for TLE is safe, with low morbidity and no mortality. Article.

Sleep Manifestations of Voltage-Gated Potassium Channel Complex Autoimmunity

Cornelius et alArticle identify the spectrum of sleep disorders associated with autoantibodies reactive with voltage-gated potassium channel (VGKC) complexes. They find that sleep disorders are cardinal manifestations of VGKC complex autoimmunity in association with a spectrum of neurologic presentations. They may respond favorably to immunotherapy.

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

Daoud and colleaguesArticle analyzed the ataxin 2 (ATXN2) CAG repeat size in a cohort of patients with amyotrophic lateral sclerosis (ALS) and healthy controls. They observed a significant association between ATXN2 high-length alleles (≥29 CAG repeats) and ALS in French and French-Canadian ALS populations. Furthermore, they identified spinocerebellar ataxia type 2–pathogenic polyglutamine expansions (≥32 CAG repeats) in both familial and sporadic ALS cases.They determined the ATXN2 CAG repeat size in 556 ALS patients and 471 controls of French and French-Canadian origin. Altogether, their findings support ATXN2 high-length repeats as a risk factor for ALS and further indicate a genetic link between spinocerebellar ataxia type 2 and ALS.

Diet Intervention and Cerebrospinal Fluid Biomarkers in Amnestic Mild Cognitive Impairment

Bayer-Carter et alArticle compare the effects of a 4-week high saturated fat/high glycemic index diet with a low saturated fat/low glycemic index diet on insulin and lipid metabolism, cerebrospinal fluid markers of Alzheimer disease, and cognition for healthy adults and adults with amnestic mild cognitive impairment. Their results suggest that diet may be a powerful environmental factor that modulates Alzheimer disease risk through its effects on central nervous system levels of Aβ42, lipoproteins, oxidative stress, and insulin.

Mean change from baseline (week 4 value−baseline value) with standard errors for cerebrospinal fluid (CSF) concentrations of β-amyloid 42 (Aβ42) (A) and insulin (B). The CSF Aβ42 decreased for healthy adults and increased for adults with mild cognitive impairment (MCI) following the low–saturated fat/low–glycemic index (LOW) diet and increased for healthy adults after the high–saturated fat/high–glycemic index (HIGH) diet (group × diet × week interaction, P < .001; LOW diet, healthy control vs MCI group change scores, P < .001; HIGH diet, healthy control vs MCI group change scores, P = .05). Diet intervention affected CSF insulin levels (time × diet interaction P = .03; LOW diet, exploratory analyses, healthy control vs MCI group change scores, P = .04; HIGH diet, healthy control vs MCI group change scores, P = .01). * P ≤ .001; † P ≤ .05; and ‡ P ≤ .01.

Mean change from baseline (week 4 value−baseline value) with standard errors for cerebrospinal fluid (CSF) concentrations of β-amyloid 42 (Aβ42) (A) and insulin (B). The CSF Aβ42 decreased for healthy adults and increased for adults with mild cognitive impairment (MCI) following the low–saturated fat/low–glycemic index (LOW) diet and increased for healthy adults after the high–saturated fat/high–glycemic index (HIGH) diet (group × diet × week interaction, P < .001; LOW diet, healthy control vs MCI group change scores, P < .001; HIGH diet, healthy control vs MCI group change scores, P = .05). Diet intervention affected CSF insulin levels (time × diet interaction P = .03; LOW diet, exploratory analyses, healthy control vs MCI group change scores, P = .04; HIGH diet, healthy control vs MCI group change scores, P = .01). * P ≤ .001; † ≤ .05; and ‡ ≤ .01.

Clinical Correlates of White Matter Tract Degeneration in Progressive Supranuclear Palsy

Whitwell and colleaguesArticle use diffusion tensor imaging to assess white matter tract degeneration in progressive supranuclear palsy and to investigate correlates between tract integrity and clinical measures. Their results demonstrate that progressive supranuclear palsy is associated with degeneration of brainstem, association, and commissural fibers and that this degeneration likely plays an important role in clinical dysfunction.

Outcomes of Mild Cognitive Impairment by Definition: A Population Study

Ganguli et alArticle determine the 1-year outcomes of individuals classified as having mild cognitive impairment by different definitions at the population level. As ascertained by several operational definitions, mild cognitive impairment is a heterogeneous entity at the population level but progresses to dementia at rates higher than in normal elderly individuals. Proportions of participants progressing to dementia are lower and proportions reverting to normal are higher than in clinical populations.

Positron Emission Tomography of Brain β-Amyloid and Tau Levels in Adults With Down Syndrome

Nelson and colleaguesArticle determine the neuropathological load in the living brain of nondemented adults with Down syndrome using positron emission tomography with 2-(1-{6-[(2-fluorine 18–labeled fluoroethyl)methylamino]-2-napthyl}ethylidene) malononitrile ([18F]FDDNP) and to assess the influence of age and cognitive and behavioral functioning. For reference, [18F]FDDNP binding values and patterns were compared with those from patients with Alzheimer disease and cognitively intact control participants. Consistent with neuropathological findings from postmortem studies, [18F]FDDNP positron emission tomography shows high binding levels in Down syndrome comparable to Alzheimer disease and greater than in members of a control group. The positive associations between [18F]FDDNP binding levels and age as well as behavioral dysfunction in Down syndrome are consistent with the age-related progression of Alzheimer-type neuropathological findings in this population.

Reliability of Seizure Semiology in Patients With 2 Seizure Foci

Rathke and colleaguesArticle determine whether seizure semiology is reliable in localizing and distinguishing seizures at 2 independent brain foci in the same patient. The focus localized by semiology was concordant with the location of intracranial electroencephalographic (EEG) seizure onset in 16 of 30 seizures (53%). No significant difference was observed between concordant and nonconcordant seizures in relation to the speed with which the EEG discharge spread from the location of seizure onset to another lobar region (P = .09, Wilcoxon rank sum test). They conclude that clinical seizure semiology is not as useful as intracranial electroencephalograms in localizing seizure onset in patients with dual seizure foci.

Observational Study of Spinal Muscular Atrophy Type 2 and 3: Functional Outcomes Over 1 Year

Kaufmann et alArticle characterize the short-term course of spinal muscular atrophy (SMA) in a genetically and clinically well-defined cohort of patients with SMA. Their results confirm previous clinical reports suggesting that SMA types 2 and 3 represent chronic phenotypes that have relatively stable clinical courses. They did not detect any measurable clinical disease progression in SMA types 2 and 3 over 12 months, suggesting that clinical trials will have to be designed to measure improvement rather than stabilization of disease progression.

Inclusion Body Myopathy With Paget Disease of Bone and Frontotemporal Dementia Linked to VCP p.Arg155Cys in a Korean Family

Kim and colleaguesArticle describe detailed clinical, electrophysiological, biochemical, and neuroimaging findings in inclusion body myopathy with Paget disease of bone and frontotemporal dementia (hereafter referred to as IBMPFD; OMIM 167320) linked to VCP p.Arg155Cys in a Korean family. The clinical features of myopathy, Paget disease of bone, and semantic dementia (a clinical subtype of frontotemporal dementia) in our patients were similar to those of previously reported cases. However, the brain magnetic resonance imaging features in our patients, including asymmetric anterior and lateral temporal and inferior parietal atrophy with ventricular dilatation on the affected side, differed from those of previously published features in patients with IBMPFD and in patients with typical semantic dementia who show anterior temporal and frontal atrophy. Their report provides the first documented IBMPFD family in Asia and broadens the phenotypic spectrum of VCP mutation–associated frontotemporal dementia.

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