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Clinical Implications of Basic Research
Stem Cells and Spinal Cord Repair
For the past couple of decades, clinicians have watched the stem-cell field with a mixture of anticipation and skepticism. No group of patients has been more expectant than those with spinal cord injuries. Therapies for spinal cord injury have been promised almost since the dawning of the stem-cell…
- May 17, 2012
- Snyder E.Y. and Teng Y.D.
- N Engl J Med 2012; 366:1940-1942
For the past couple of decades, clinicians have watched the stem-cell field with a mixture of anticipation and skepticism. No group of patients has been more expectant than those with spinal cord injuries. Therapies for spinal cord injury have been ...
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Review Article
Mechanisms of Disease: Diabetic Retinopathy
Until recently, the treatment for diabetic retinopathy relied almost exclusively on managing the metabolic dysregulation of diabetes mellitus until the severity of vascular lesions warranted laser surgery. Intensive metabolic control remains a highly effective means of controlling retinopathy and…
- March 29, 2012
- Antonetti D.A., Klein R., Gardner T.W.
- N Engl J Med 2012; 366:1227-1239
- CME
The incidence of diabetes is increasing, but that of diabetic retinopathy is falling, probably owing to better management of glucose levels, lipid abnormalities, and hypertension. Clinical trials of VEGF and PPAR-α inhibitors are improving vision and providing insights into pathogenesis.
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Editorial
Realizing Genomic Medicine
The current series of Genomic Medicine review articles concludes in this issue of the Journal with the publication of an article on cognitive impairment and autism by Mefford and colleagues. The topic of this article is an appropriate capstone for the Genomic Medicine series: it highlights the…
- February 23, 2012
- Phimister E.G., Feero W.G., Guttmacher A.E.
- N Engl J Med 2012; 366:757-759
- Free Full Text
The current series of Genomic Medicine review articles concludes in this issue of the Journal with the publication of an article on cognitive impairment and autism by Mefford and colleagues.¹ The topic of this article is an appropriate capstone for the ...
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Clinical Implications of Basic Research
Sense in Antisense Therapy for Spinal Muscular Atrophy
The defining feature of autosomal recessive spinal muscular atrophy is the dying back of motor neurons, which causes generalized paresis and, in the most severe and common form of this disorder (type 1), results in fatal respiratory failure. A direct corollary of this outcome is that correction of…
- February 23, 2012
- MacKenzie A.
- N Engl J Med 2012; 366:761-763
A signal feature of spinal muscular atrophy (SMA) is the dying back of motor neurons. This is caused by a loss-of-function mutation in SMN1. Administration of an oligonucleotide that modifies the processing of SMN2, a homologous gene, extends the life span in a mouse model of SMA.
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Review Article
Genomic Medicine: Genomics, Intellectual Disability, and Autism
Intellectual disability, which is characterized by significant limitations in both intellectual functioning and adaptive behavior that begin before the age of 18 years, affects 1.5 to 2% of the population in Western countries. A diagnosis of intellectual disability is usually made when IQ testing…
- February 23, 2012
- Mefford H.C., Batshaw M.L., Hoffman E.P.
- N Engl J Med 2012; 366:733-743
- Free Full Text
The authors discuss the substantive impact of recent advances in genomic technologies on the diagnosis and understanding of intellectual disability and autism.
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Review Article
Current Concepts: The Autosomal Recessive Cerebellar Ataxias
The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on clinical rather than molecular considerations. This review focuses on the main forms in which cerebellar…
- February 16, 2012
- Anheim M., Tranchant C., Koenig M.
- N Engl J Med 2012; 366:636-646
- CME
- Video
Autosomal recessive cerebellar ataxia must be considered in any child or young adult with a progressive disorder of gait or balance or with hypotonia or excessive clumsiness. This review presents a practical approach to these neurodegenerative diseases.
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Clinical Therapeutics
Fingolimod for Multiple Sclerosis
Foreword. This Journal feature begins with a case vignette that includes a therapeutic recommendation. A discussion of the clinical problem and the mechanism of benefit of this form of therapy follows. Major clinical studies, the clinical use of this therapy, and potential adverse effects are…
- January 26, 2012
- Pelletier D. and Hafler D.A.
- N Engl J Med 2012; 366:339-347
- CME
A 37-year-old man with multiple sclerosis has recurrent disease activity despite several previous therapies. Treatment with fingolimod is recommended. Fingolimod blocks the egress of lymphocytes from lymph nodes, preventing them from reaching the central nervous system.
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Correspondence
Repeat Expansion in C9ORF72 in Alzheimer's Disease
To the Editor: Alzheimer's disease is the most common progressive neurodegenerative disorder and a leading cause of dementia in the elderly. The genetic causes of Alzheimer's disease are complex, and only four mendelian genes have indisputably been associated with the disease. Mutations in genes…
- January 19, 2012
- N Engl J Med 2012; 366:283-284
- Free Full Text
A hexanucleotide repeat expansion in the gene C9ORF72 has been implicated in the development of amyotrophic lateral sclerosis and frontotemporal dementia. The variant has also been found in a small percentage of patients with probable late-onset Alzheimer's disease.
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Original Article
INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy
Charcot–Marie–Tooth disease refers to a heterogeneous group of inherited chronic peripheral motor and sensory neuropathies. Affected persons typically present with progressive distal-muscle weakness and atrophy, reduced tendon reflexes, and foot and hand deformities. Three…
- December 22, 2011
- Boyer O., Nevo F., Plaisier E., et al.
- N Engl J Med 2011; 365:2377-2388
The authors report that INF2 mutations are present in patients with focal segmental glomerulosclerosis (FSGS) associated with Charcot–Marie–Tooth neuropathy. The findings provide insight into mechanisms linking formin proteins to podocyte and Schwann-cell function.
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Clinical Implications of Basic Research
Microtubules, Axonal Transport, and Neuropathy
A physical dimension of a cell is seldom its Achilles' heel. Yet for the neurons that are affected in most kinds of peripheral neuropathy, it is the length of their axons that best accounts for their selective vulnerability. As shown in Figure 1, the axon is contiguous with its cell soma. The soma…
- December 15, 2011
- Holzbaur E.L.F. and Scherer S.S.
- N Engl J Med 2011; 365:2330-2332
Understanding the function of proteins rendered mutant in disease provides insight into the mechanism of disease. Recent studies implicate the axonal cytoskeleton in neuropathies.
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Editorial
Inflammation in Multiple Sclerosis — Sorting Out the Gray Matter
In this issue of the Journal, Lucchinetti and colleagues report a high prevalence of cortical gray-matter inflammation and demyelination on tissue obtained at biopsy from patients with multiple sclerosis of new onset. Although several prior studies have documented demyelinating lesions in the gray…
- December 8, 2011
- Calabresi P.A.
- N Engl J Med 2011; 365:2231-2233
In this issue of the Journal, Lucchinetti and colleagues report a high prevalence of cortical gray-matter inflammation and demyelination on tissue obtained at biopsy from patients with multiple sclerosis of new onset.¹ Although several prior studies have ...
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Original Article
Inflammatory Cortical Demyelination in Early Multiple Sclerosis
Diagnostic, therapeutic, and investigative efforts in multiple sclerosis have concentrated on disease of the white matter. Imaging and histopathological studies suggest that cortical damage is a correlate of cognitive dysfunction and disease progression, reflecting demyelination or secondary…
- December 8, 2011
- Lucchinetti C.F., Popescu B.F.G., Bunyan R.F., et al.
- N Engl J Med 2011; 365:2188-2197
Analysis of tissue from brain cortex obtained during biopsy of white-matter lesions in persons with early-stage multiple sclerosis suggests that cortical demyelinating lesions are common and inflammatory.
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Case Records of the Massachusetts General Hospital
Case 37-2011 — A 9-Month-Old Boy with Recurrent Tachypnea and Respiratory Distress
Presentation of Case. Dr. Sze Man Tse (Pediatrics): A male infant was admitted to this hospital at the age of 5.5 months, because of tachypnea and respiratory distress. The patient had been well until 2 days earlier, when cough and somnolence developed. The night before admission, the temperature…
- December 8, 2011
- Kinane T.B., Shailam R., Mark E.J.
- N Engl J Med 2011; 365:2221-2228
A 9-month-old boy had had recurrent episodes of tachypnea and respiratory distress since he was 5.5 months of age, with expiratory wheezing and fine crackles on auscultation, hyperinflation on chest radiography, and bilateral ground-glass opacities on CT.
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Case Records of the Massachusetts General Hospital
Case 34-2011 — A 75-Year-Old Man with Memory Loss and Partial Seizures
Presentation of Case. A 75-year-old physician was seen in an outpatient office at this hospital because of memory loss and episodes of near-syncope. The patient had been generally well, except for mild and gradual memory loss, until 7 months earlier, when episodes of diffuse tingling and a…
- November 10, 2011
- Cash S.S., Larvie M., Dalmau J.
- N Engl J Med 2011; 365:1825-1833
A 75-year-old man was seen because of memory loss and episodes of near-syncope, with word-finding difficulty and unilateral twitching. MRI with contrast material revealed hyperintensity and mild expansion of the left hippocampus, without enhancement.
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Review Article
Current Concepts: Sudden, Unexpected Death in Epilepsy
Epilepsy is characterized by both recurrent seizures and clinical uncertainty. Paroxysmal symptoms unpredictably punctuate life. Although most people with epilepsy live full and productive lives, doctors may too readily assure patients that seizures "never hurt the brain" and "are never fatal."…
- November 10, 2011
- Devinsky O.
- N Engl J Med 2011; 365:1801-1811
- CME
The magnitude of the problem of sudden unexplained death in epilepsy is unrecognized in both the medical and lay communities. This review presents information on frequency, risk factors, and theories about mechanisms and recommends strategies for prevention and for patient education.
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Clinical Implications of Basic Research
Can Age-Associated Memory Decline Be Treated?
Many older adults believe that their memory is not as good as it was when they were younger. An epidemiologic study in Finland documented that 76% of persons over the age of 60 years reported problems with their memory. Age-associated memory decline has been well studied and refers to changes in…
- October 6, 2011
- D'Esposito M. and Gazzaley A.
- N Engl J Med 2011; 365:1346-1347
Many older adults believe that their memory is not as good as it was when they were younger. An epidemiologic study in Finland documented that 76% of persons over the age of 60 years reported problems with their memory.¹ Age-associated memory decline has ...
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Review Article
Current Concepts: Drug-Resistant Epilepsy
Fifty million people in the world have epilepsy, and there are between 16 and 51 cases of new-onset epilepsy per 100,000 people every year. A community-based study in southern France estimated that up to 22.5% of patients with epilepsy have drug-resistant epilepsy. Patients with drug-resistant…
- September 8, 2011
- Kwan P., Schachter S.C., Brodie M.J.
- N Engl J Med 2011; 365:919-926
- CME
Nearly a quarter of patients with seizures have drug-resistant epilepsy. This review examines how this diagnosis should be established and how to recognize pseudoresistance. It explains possible mechanisms of drug-resistant epilepsy and presents treatment strategies.
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Clinical Implications of Basic Research
SHANK3, the Synapse, and Autism
Autism spectrum disorders present a paradox of great heterogeneity and great specificity. Well over 100 genetic disorders yield an autism phenotype, most through specific but distinct mechanisms, and many of which affect the synapse. SHANK3 (SH3 and multiple ankyrin repeat domains 3) is known to be…
- July 14, 2011
- Herbert M.R.
- N Engl J Med 2011; 365:173-175
Variants of SHANK3, a gene encoding a structural component of the postsynaptic density, have been associated with autism. Mice engineered to carry mutant genes showed autism-like behavioral features that included repetitive grooming and disinclination to socialize.
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Case Records of the Massachusetts General Hospital
Case 8-2011 — A 32-Year-Old Woman with Seizures and Cognitive Decline
Presentation of Case. A 32-year-old woman was seen in the neurogenetics clinic at this hospital because of seizures and cognitive decline. Absence seizures (staring spells) had reportedly begun when the patient was approximately 5 years of age, and atonic seizures (sudden loss of muscle tone…
- March 17, 2011
- Sims K.B., Cole A.J., Sherman J.C., Caruso P.A., Snuderl M.
- N Engl J Med 2011; 364:1062-1074
A 32-year-old woman had seizures since childhood, myoclonus, and recent cognitive decline. Family members had an autosomal-dominant pattern of neurologic disease. Diagnostic testing was performed. Cognitive decline continued; the patient died 2 years later. An autopsy was performed.
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Images in Clinical Medicine
Facial Angiofibromas Associated with Tuberous Sclerosis
Figure 1.
- March 17, 2011
- Hamilton H.K. and Tonkovic-Capin V.
- N Engl J Med 2011; 364:1061
- Free Full Text
A 29-year-old woman presented with a long-standing history of yellow-orange papules on her nose and cheeks, skin-colored papules at the proximal nail fold of several toes, and a skin-colored plaque on her back. These findings were diagnosed as facial ...
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Medical Meetings Pediatrics Conferences and Meetings

2012 Certifying Examinations of the American Board of Pediatrics

The general pediatrics examination will be held in various cities, Oct. 16-18. Registration for first-time applicants is ongoing through May 3. Registration for re-registrants is ongoing through May 24. The following subspecialty examinations will be held in various cities: "Hospice and Palliative Medicine" (Oct. 4); "Pediatric Transplant Hepatology" (Oct. 11); "Pediatric Cardiology" (Nov. 7); "Pediatric Pulmonology" (Nov. 8); "Medical Toxicology" (Nov. 12); and "Pediatric Critical Care Medicine" (Nov. 14). Registration for first-time applicants is ongoing through April 30. Registration for re-registrants is ongoing through June 15.

Contact the American Board of Pediatrics, 111 Silver Cedar Court, Chapel Hill, NC 27514-1513; or call (919) 929-0461; or fax (919) 918-7114 or (919) 929-9255; or see http://www.abp.org .

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Browse Neuroscience

Showing 1 to 20 of 36 Articles

Filter Results

Stem Cells and Spinal Cord Repair

Mechanisms of Disease: Diabetic Retinopathy

Realizing Genomic Medicine

Sense in Antisense Therapy for Spinal Muscular Atrophy

Genomic Medicine: Genomics, Intellectual Disability, and Autism

Current Concepts: The Autosomal Recessive Cerebellar Ataxias

Fingolimod for Multiple Sclerosis

Repeat Expansion in C9ORF72 in Alzheimer's Disease

INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

Microtubules, Axonal Transport, and Neuropathy

Inflammation in Multiple Sclerosis — Sorting Out the Gray Matter

Inflammatory Cortical Demyelination in Early Multiple Sclerosis

Case 37-2011 — A 9-Month-Old Boy with Recurrent Tachypnea and Respiratory Distress

Case 34-2011 — A 75-Year-Old Man with Memory Loss and Partial Seizures

Current Concepts: Sudden, Unexpected Death in Epilepsy

Can Age-Associated Memory Decline Be Treated?

Current Concepts: Drug-Resistant Epilepsy

SHANK3, the Synapse, and Autism

Case 8-2011 — A 32-Year-Old Woman with Seizures and Cognitive Decline

Facial Angiofibromas Associated with Tuberous Sclerosis

Medical Meetings Pediatrics Conferences and Meetings

2012 Certifying Examinations of the American Board of Pediatrics

Trends: Most Viewed (Last Week)