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In Focus
Robert A. Gross, MD, PhD
Editor-in-Chief
Familial neuromyelitis optica This paper describes a case series involving the demographic,
clinical, neuroimaging, and NMO-IgG serologic status of 12
multiplex neuromyelitis optica (NMO) pedigrees in a total of
25 affected individuals. Familial NMO was indistinguishable
from sporadic NMO based on clinical symptoms, age at onset,
sex distribution, and frequency of NMO-IgG detection,
suggesting complex genetic susceptibility in NMO. See p. 310
Redefining dysferlinopathy phenotypes based on clinical
findings and muscle imaging studies This retrospective study
assessed lower limb MRI in
29 patients to identify the
pattern of muscle
impairment and quantify
involvement. The finding
that proximal and distal
muscles were already
impaired at onset in both
Miyoshi myopathy and
limb-girdle muscular
dystrophy 2B favors grouping all phenotypes under the term
dysferlin myopathy. See p. 316 ;and Editorial, p. 298
Quality of life declines after first ischemic stroke:
The Northern Manhattan Study
The long-term quality of life of stroke patients is not well
characterized. In this population-based study of 525 patients
with first ischemic stroke, there was a linear decline in quality
of life over 5 years independent of recurrent vascular events
and common predictors. See p. 328
Use of antiepileptic drugs in epilepsy and the risk of selfharm
or suicidal behavior
This observational study investigated the risk of suicidal
behavior associated with the use of antiepileptic drugs in
44,300 patients with epilepsy. The authors found an
increased risk in some of the newer antiepileptic drugs, but
not from the most commonly used antiepileptic drugs. See p. 335;and Editorial, p. 300
Physical activities and future risk of Parkinson disease Physical activity was evaluated in 213,701 participants in
the NIH-AARP Diet and Health. The authors found that higher
levels of moderate to vigorous physical activities were
associated with lower risk of Parkinson disease; further
analysis suggests that this finding might not be due to
reverse causality. See p. 341
Cortical neuroanatomic correlates of symptom severity in
primary progressive aphasia Forty right-handed patients
with primary progressive
aphasia had performancebased
language testing
using the Progressive
Aphasia Severity Scale
(PASS) and MRI scans.
These data support the
value of PASS and MRI as
novel clinical measures and as markers for potential use in
clinical research and trials in primary progressive aphasia. See p. 358
Nongenetic factors influence severity of episodic ataxia
type 1 in monozygotic twins
The authors evaluated 3 families with episodic ataxia type 1
phenotype, 2 of which included monozygotic twins. They
sequenced the KCNA1 gene and studied the biophysical
consequences of the mutations in HEK cells. The occurrence
of epilepsy in 1 of 2 families with the F414S mutation
suggests interplay of KCNA1 with other genetic factors. See p. 367
