21
AASM Membership Sections Newsletter
■
Issue #6
and Sleep Medicine, Director of the
Sleep and Cognitive Neurophysiology
Laboratory, and Associate Dean for
Maintenance of Certification at the
Mayo Clinic in Rochester, Minnesota.
He is board certified in Sleep
Medicine, Adult Neurology, Epilepsy
and Clinical Neurophysiology. Dr.
St. Louis received his training at St.
Olaf College, the Medical College
of Wisconsin, Mayo Clinic and the
University of Iowa. His research
interests include REM sleep behavior
disorder and the interfaces between
epilepsy, sleep and cognition, under
support of the Mayo Center for
Clinical and Translational Science
(CCaTS). Current research includes
the investigation of quantitative
neurophysiologic characteristics,
cognition and driving simulation
and treatment outcomes in patients
with REM sleep behavior disorder,
as well as application of the event-
related potentials (ERP) technique to
investigate cognitive impairments in
neurological and sleep disorders. Dr.
St. Louis co-edited the forthcoming
book “Epilepsy and the Interictal
State: Co-morbidities and Quality of
Life” (Wiley-Blackwell, due in early
2015), and serves on the Editorial
Board of the American Academy of
Neurology Continuum.
Ramadevi Gourineni, MD
Dr. Ramadevi Gourineni, MD, is a
Neurologist and specialist in the field
of Sleep Medicine. She obtained her
medical degree from Kurnool Medical
School in Andhra Pradesh, India. Her
Neurology training was completed at
the University of Illinois in Chicago,
IL. She also completed 2 fellowships;
the first was in EEG and Sleep at
Loyola University in Maywood, IL and
the second was in Sleep Medicine at
Northwestern University in Chicago,
IL. She worked for 2 years at Loyola
University as an Assistant Professor
in Neurology. She is currently an
Associate Professor in Neurology
at Northwestern Feinberg School of
Medicine.
during polysomnography was highly
disturbed, with poorly structured or
undifferentiated NREM sleep and frequent
spontaneous and movement-related
arousals associated with rapid periodic
limb movements with an interval under 5
seconds, thereby not fulfilling usual PLM
scoring standards.
Neurological manifestations included
progressive gait instability with
falling, bulbar symptoms of dysphagia
and dysarthria, vocal cord paresis,
dysautonomia, chorea or dementia,
following a subacute course (2-6 months)
in two patients and chronic progressive
course (median 5 years, range 2-12
years) in six patients. Treatment with
immunosuppression was ineffective in 7 of
the 8 patients; one patient who improved
with immunotherapy, as well as four of the
other non-responders, suffered sudden
unexplained death, two of these five dying
during sleep. Four of the patients had
uncommon HLA types within the Spanish
population, including HLA DQBI*0501 or
HLA DQBI*1001.
Two patients who underwent autopsy
were found to have extensive neuronal loss
and gliosis, with hyperphophorylated tau
and neurofibrillary tangle deposits (but no
beta-amyloid or alpha-synuclein deposits)
in the pons, medulla and hypothalamus.
In the three patients who were tested, CSF
hypocretin was normal. All were found
to have a novel autoantibody against
IgLON5 using immunohistochemical
techniques that were absent in 297 of 298
sleep, neurodegenerative and autoimmune
controls studied (1 control with progressive
supranuclear palsy also proved to be
IgLON5 antibody positive). No patients
had other autoimmunity against NMDA,
GABAB, AMPA, mGluR1 or mGluR5
receptors, DPPX, LGI1 or Caspr2.
This parasomnia with prominent
sleep disordered breathing and cortical,
subcortical, and brainstem referable
neurological manifestations appears
distinct from both agrypnia excitata and
status dissociatus given its occasionally
normal NREM sleep architecture and
definable NREM and REM sleep periods.
Fascinatingly, the IgLON5 syndrome
suggests possible links between sleep,
autoimmunity and neurodegeneration.
Further prospective research in other
worldwide cohorts will be necessary to
better establish the full significance, clinical
spectrum and treatability of this novel
enigmatic syndrome, and to determine
whether IgLON5 autoimmunity is cause,
effect or neither.
Publication 2:
Publication:
Frauscher B, Gabelia D,
Mitterling T, Biermayr M, Bregler D,
Ehrmann L, Ulmer H, Högl B. Motor
events during healthy sleep: a quantitative
polysomnographic study. Sleep. 2014 Apr
1;37(4):763-73, 773A-773B.
Review:
With normative values lacking,
the goal of this study sought to quantify
the large range of motor phenomenon
present during sleep in healthy adults.
One hundred healthy adults, who passed a
rigorous health screen, underwent one night
of state-of-the-art PSG. Quantification of
various motor activity including periodic
leg movements (PLMS), high frequency
leg movements (HFLM), fragmentary
myoclonus (FM), neck myoclonus (NM)
and rapid eye movement (REM)-related
electromyographic (EMG) activity were
performed. The main results were as follows:
36% had a PLMS index > 5/h, although the
PLM arousal index was negligible. 22% had
a periodicity index > 0.6, suggesting RLS.
Every subject in the study had FM during
sleep, and 9% met the AASM criteria for
excessive FM, with advancing age and a sex
preference in men as significant factors.
35% of all subjects had NM. Regarding
REM sleep, the rate of “any” and phasic
mentalis EMG activity was unexpectedly
high (e.g. 36% exceeded the mentalis phasic
