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Gaze Palsy - Articles

Genetics Home Reference: progressive supranuclear palsy by nih.gov Posted Mon 21 Mar 2011 12:26pm On this page: Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions Reviewed March 2011 What is progressive supranuclear palsy? Progressive supranuclear palsy is a brain d ... Read on »
Frontotemporal dementia syndromes by Neurodoc .. Patient Expert Posted Mon 07 Jul 2008 7:13pm Kertesz A et al. The Evolution and Pathology of Frontotemporal dementia Brain 2005 128;1996-2005 Pathology varies. It can include balloon neurons (corticobasal ganglionic degenerations), microtubular tau (50%) and inclusions that are tau negative and ubiquitin positive (50-60 %) also called MND type inclusions. Another group lacks the above a ... Read on »
Frontotemporal dementia syndromes by Neurodoc .. Patient Expert Posted Fri 17 Oct 2008 9:12pm Kertesz A et al. The Evolution and Pathology of Frontotemporal dementia Brain 2005 128;1996-2005 Pathology varies. It can include balloon neurons (corticobasal ganglionic degenerations), microtubular tau (50%) and inclusions that are tau negative and ubiquitin positive (50-60 %) also called MND type inclusions. Another group lacks the abo ... Read on »
Genetics Home Reference: frontotemporal dementia with parkinsonism-17 by nih.gov Posted Mon 21 Mar 2011 12:26pm (also known as FTDP-17) On this page: Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions Reviewed March 2011 What is FTDP-17? Frontotemporal dementia with parkinsonism-17 ... Read on »
Genetics Home Reference: fatty acid hydroxylase-associated neurodegeneration by nih.gov Posted Wed 31 Oct 2012 11:39am On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed October 2012 What is fatty acid hydroxylase-associated neurodegeneration? Fatty acid hydroxylase-associated neu ... Read on »
Genetics Home Reference: Pol III-related leukodystrophy by nih.gov Posted Tue 18 Jun 2013 12:57pm On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed June 2013 What is Pol III-related leukodystrophy? Pol III-related leukodystrophy ... Read on »
The natural history of cognitive dysfunction in late onset GM2 gangliosidosis by Neurodoc .. Patient Expert Posted Mon 07 Jul 2008 7:13pm Frey LC, Ringel SP, Filley CM. Arch Neurol 2005;62:989-994 Comment-- As one my mentors warned, pediatric diseases show up in adults and we need to diagnose them. This is the "adult form" of Tay Sachs disease. Late onset GM2 gangliosidosis (LGG)has late onset (adolescents and young adults), has a prolonged disease course, comparably late onset ... Read on »
Summary Update 8/1/09 by Carrie Ostrea Posted Tue 04 Aug 2009 7:37pm Where we are now…(as of 8/1/09) My baby girl is ONE year old now!  This was a milestone that I spent many nights fearing we would never see over the past year, but here she is.  She made it.  Not only that, she made it in style!  We are having a big birthday party for her tomorrow! We had a wonderful experience at the National Institutes of ... Read on »
Hannah has brainstem dysfunction by Carrie Ostrea Posted Thu 13 Aug 2009 7:48pm Brainstem dysfunction.  This is the term that both Dr. Goker-Alpan and Dr. Schiffmann used to describe Hannah’s neuronopathic Gaucher symptoms.   For whatever reason, I didn’t flinch when we talked about her abnormal eye movements (supranuclear gaze palsy, ocular motor apraxia), her vocal cord paresis (weakness), or even her developmental del ... Read on »
The infamous list by Carrie Ostrea Posted Tue 01 Sep 2009 5:41pm Hannah and I met with a nurse from the DADS (Department of Aging and Disability Services) office regarding getting Hannah on the MDCP (Medically Dependent Children’s Program) program sooner than the 9 years that the waiting list is currently at.  We are hoping that she will qualify for a “waiver” program that will allow us to take advantage of so ... Read on »