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This Month in Archives of Neurology |

This Month in Archives of Neurology FREE

Arch Neurol. 2012;69(8):957-958. doi:10.1001/archneurol.2011.1469.
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TRANSLATIONAL RESEARCH IN NEUROLOGY: DEMENTIA

HonigArticle discusses the application of translational research to both diagnosis and treatment of dementia disorders. The development of biomarkers has yielded imaging and biochemical methods that assist the physician more than ever in the diagnosis of neurodegenerative dementias, especially Alzheimer disease. New diagnostic criteria for disease are based on these molecular-based techniques.

HETEROGENEITY OF COENZYME Q10 DEFICIENCY: PATIENT STUDY AND LITERATURE REVIEW

Emmanuele and colleaguesArticle noted that coenzyme Q10 (CoQ10) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. They conducted a review of 149 cases, including their cohort of 76 patients, to study the heterogeneity of CoQ10 deficiency. Identification of CoQ10 deficiency is important because the condition frequently responds to treatment.

DIVERSITY MATTERS: THE IMPORTANCE OF COMPARATIVE STUDIES AND THE POTENTIAL FOR SYNERGY BETWEEN NEUROSCIENCE AND EVOLUTIONARY BIOLOGY

CarlsonArticle highlights the enormous potential for synergy between neuroscience and evolutionary biology using recent findings from research on African fishes that use electricity to communicate and navigate in their dark underwater world.

PRESENCE AND PATHOGENIC RELEVANCE OF ANTIBODIES TO CLUSTERED ACETYLCHOLINE RECEPTOR IN OCULAR AND GENERALIZED MYASTHENIA GRAVIS

Jacob and colleaguesArticle test the presence of clustered acetylcholine receptor antibodies (AChR-Abs) and their pathophysiologic properties in patients with seronegativemyasthenia gravis. They report a proportion of patients with seronegative generalized myasthenia gravis or ocular myasthenia gravis have clustered AChR-Abs that correlate with their electrophysiologic features. Clustered AChR-Abs can passively transfer disease to mice, demonstrating their pathogenicity, and the mechanisms seem similar to those of patients with typical AChR-Abs. Editorial perspective is provided by Lewis P. Rowland, MDArticle.

EFFECT OF IMMUNOTHERAPY WITH BAPINEUZUMAB ON CEREBROSPINAL FLUID BIOMARKER LEVELS IN PATIENTS WITH MILD TO MODERATE ALZHEIMER DISEASE

Blennow et alArticle evaluate the effect of the anti-Aβ monoclonal antibody bapineuzumab on cerebrospinal fluid (CSF) biomarkers reflecting Aβ homeostasis, neuronal degeneration, and tau-related pathology in patients with Alzheimer disease. They show that passive Aβ immunotherapy with bapineuzumab results in decreases in CSF T-tau and P-tau, which may indicate downstream effects on the degenerative process. Cerebrospinal fluid biomarkers may be useful to monitor the effects of novel disease-modifying anti-Aβ drugs in clinical trials.

PERVASIVE OCULAR TREMOR IN PATIENTS WITH PARKINSON DISEASE

Gitchel and colleaguesArticle assess oculomotor control of patients with Parkinson disease (PD) during fixation and with movement. All patients with PD exhibited persistent ocular tremor that prevented stability during fixation. The pervasiveness and specificity of this feature suggest that modern, precise oculomotor testing could provide a valuable early physiological biomarker for diagnosing PD.

COMPARISON OF CEREBROSPINAL FLUID LEVELS OF TAU AND AΒ 1-42 IN ALZHEIMER DISEASE AND FRONTOTEMPORAL DEGENERATION USING 2 ANALYTICAL PLATFORMS

Irwin et alArticle measure values of cerebrospinal fluid tau and β-amyloid obtained from 2 different analytical immunoassays to differentiate Alzheimer disease (AD) from frontotemporal lobar degeneration (FTLD). They determined that values from 2 analytical platforms can be transformed into equivalent units, which can distinguish AD from FTLD more accurately than the clinical diagnosis.

PAINFUL TONIC SPASM IN NEUROMYELITIS OPTICA: INCIDENCE, DIAGNOSTIC UTILITY, AND CLINICAL CHARACTERISTICS

Kim and colleaguesArticle evaluate the diagnostic utility and clinical characteristics of painful tonic spasm in neuromyelitis optica (NMO). Painful tonic spasm is a common symptom in NMO. When associated with myelitis, it is relatively specific to patients with NMO and is most commonly observed during recovery from the first myelitis episode.

EFFECTS OF AGE AND SEX ON AQUAPORIN-4 AUTOIMMUNITY

Quek and colleaguesArticle determine the sex and age distribution of aquaporin-4 (AQP4) autoimmunity using data derived from clinical service laboratory testing of 56 464 patient samples. Seropositivity for AQP4-IgG occurs predominantly in females, particularly in individuals older than 18 years. Among seropositive patients, 1 in 6 is in the extremes of age. The detection rate of AQP4-IgG increased in women after age 50 years.

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Analysis of detection rates (proportion of seropositive individuals defined by decade of age) of aquaporin-4 (AQP4)–IgG in females and males revealed a higher detection rate for females compared with males. An increased likelihood of detecting AQP4 autoimmunity was found in females after age 50 years, with the female detection rate increasing exponentially from ages 51 to 60 years.

PAINFUL LEGS AND MOVING TOES SYNDROME: A 76-PATIENT CASE SERIES

Hassan et alArticle characterize the clinical features, electrophysiologic features, and treatment outcomes of painful legs and moving toes syndrome. Painful legs and moving toes syndrome is a debilitating clinical syndrome, not because of the movements but rather because of the pain, which often is refractory to treatment. Segmental lower limb involvement is most common, and neurophysiologic findings support a pathophysiologic process localizing to a central generator at the spinal cord or brainstem level.

Ω-3 FATTY ACID TREATMENT IN MULTIPLE SCLEROSIS (OFAMS STUDY): A RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL

Torkildsen et alArticle investigate whether ω-3 fatty acids reduce magnetic resonance imaging and clinical disease activity in patients with multiple sclerosis, both as monotherapy and in combination with interferon beta-1a treatment. No beneficial effects on disease activity were detected from ω-3 fatty acids when compared with placebo as monotherapy or in combination with interferon beta-1a. Magnetic resonance imaging disease activity was reduced as expected by interferon beta-1a.

FRONTOTEMPORAL DEMENTIA IN ELDERLY INDIVIDUALS

Baborie and colleaguesArticle determine whether cases of frontotemporal lobar degeneration (FTLD) do exist in elderly individuals and have clinical and neuropathological features distinct from those with presenile onset. Frontotemporal lobar degeneration in elderly patients does exist as a separate entity from presenile-onset FTLD. Its main features include (1) clinically frequent memory loss and behavioral change predominating over language and semantic dysfunction and (2) neuropathologically prominent hippocampal sclerosis but less pronounced cortical lobar atrophy. Clinically, FTLD in elderly patients is underrecognized and should be considered in the elderly subjects presenting with an “atypical Alzheimer disease” phenotype.

Figures

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Graphic Jump LocationImage not available.

Analysis of detection rates (proportion of seropositive individuals defined by decade of age) of aquaporin-4 (AQP4)–IgG in females and males revealed a higher detection rate for females compared with males. An increased likelihood of detecting AQP4 autoimmunity was found in females after age 50 years, with the female detection rate increasing exponentially from ages 51 to 60 years.

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