In the last issue, Neurology Today published the picks by our editorial advisory board of the most important advances — papers, policies, and other developments — inneurology in 2012. Following are two more selections.
LEWIS P. ROWLAND, MD, chief editoremeritus ofNeurology Today,professor of neurology, Columbia University College of Physicians and Surgeons, Neurological Institute, New York, NY:
The Pick: Cooper-Knock J, Hewitt C, Shaw PJ, etc.Clinico-pathologicalfeatures in amyotrophiclateralsclerosis with expansions in C90RF72. Brain 2012;135: 751–764.
Mahoney CJ, Beck J, Warren JD, et al. FTD with C90RF72 hexanucleotide repeat expansion: Clinical, neuroanatomical and neuropathologicalfeatures. Brain 2012;135;736–750.
Results: Mutations in the C90RF72 gene on chromosome 9 have been linked to familial or sporadic frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS).
In the study by J. Cooper-Knock, et al, the authors studied a cohort of 563 cases, including 63 with a family history of ALS. The gene expansion was found in 62 cases — 11 percent of the cohort; 43 percent werefamilial ALSand 7 percent had sporadic or familial ALS. The mutant C90RF72 cases were more severe than the others and all showed both upper and lower motor neuron disease (MND). Dementia was present in patients or families in 22 of 62 cases.
In the study by CJ Mahoney, et al, these mutations accounted for 35 percent of the FTD cases, 36 percent of those with clinical evidence of MND, and 7 percent of the entire cohort. During follow-up, 60 percent of cases developed signs of MND. The C90RF72-positive cases showed more severe brain changes than those with progranulin or tau mutations.
Why It's Important: These two noteworthy papers show an inextricable link between the C90RF72 mutation and MND. The mutation causes both diseases but how the disease comes about (its pathogenesis) is still uncertain and therapy is still elusive.
See Neurology Today story, “News from the AAN Annual Meeting: C9ORF72 Studies Shed Light on the Most Common Genetic Cause of ALS and FTD”: http://bit.ly/12EMoL3.
DONALD J. IVERSON, MD, Editor of the AAN Performance in Practice modules, Humboldt Neurological Medical Group, Eureka, CA.
The Pick:National Federation of Independent Business et al v Sebelius, Secretary of Health and Human Services, et al: http://1.usa.gov/M8yRq6.
Results: This Supreme Court ruling, decided on June 28, 2012, upheld the Patient Protection and Affordable Care Act. The law, which includes a requirement that most Americans have health insurance by 2014, also establishes an Independent Payment Advisory Board (IPAB) that, unlike the Medicare Payment Advisory Commission, or MedPAC, has no direct congressional oversight. The mission of IPAB is to lower Medicare expenses.
Why It's Important: IPAB is, bystatute, prohibited from any actions that increase expenses or reduce benefits to Medicare recipients; thus, to lower costs, it will most likely continue to lower payments to providers. Hospitals are protected from cuts until 2020, leavingphysicians as the most likely, politically expedient target for payment cuts. Previous predictions of payment cutsresulting in restricted access to physicians have not proved convincing to MedPAC. Whether IPAB heeds the warnings of further restricted access remains to be seen.
See Neurology Today story, “Policy Watch: The Impact of the Supreme Court Ruling on Neurology”: http://bit.ly/QBj7fQ.