Neurofilament inclusion body disease: a new proteinopathy?
نویسندگان
چکیده
منابع مشابه
Neurofilament inclusion body disease: a new proteinopathy?
We describe four cases of a new clinicopathological entity presenting with either a frontotemporal dementia or corticobasal degeneration syndrome with a mean age of onset of 45 years (range 41-50) characterized pathologically by deposition of neurofilament proteins. All four patients had a rapidly progressive course and have become mute and non-ambulatory, and three have died after mean illness...
متن کاملNeuro®lament inclusion body disease: a new proteinopathy?
Departments of 1Neurology, 2Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN and 3Department of Pathology (Neuropathology), Mayo Clinic, Jacksonville, FL, 4Department of Pathology, Orlando Regional Medical Center, Orlando, FL, USA, 5Dementia Research Group, 6Department of Motor Neuroscience and Movement Disorders and 7Queen Square Brain Bank, Department of Molecular Neuroscience an...
متن کاملIsolated inclusion body myopathy caused by a multisystem proteinopathy–linked hnRNPA1 mutation
OBJECTIVE To identify the genetic cause of isolated inclusion body myopathy (IBM) with autosomal dominant inheritance in 2 families. METHODS Genetic investigations were performed using whole-exome and Sanger sequencing of the heterogeneous nuclear ribonucleoprotein A1 gene (hnRNPA1). The clinical and pathologic features of patients in the 2 families were evaluated with neurologic examinations...
متن کاملCytomegalic Inclusion-Body Disease
Premature baby unit at Southmead Hospital where she arrived 1J hours after birth. The whole of her body was found to be covered by petechial haemorrhages which in Places merged to form larger lesions resembling bruises. She had a very large spleen , and a very large liver and was thought to be very slightly jaundiced. It was soon realized that this baby had some quite unusual problem and our fi...
متن کاملA new inclusion body in rheumatoid synovia.
As part of the current research programme these laboratories are investigating the synovia of normal and abnormal human joints by light and electron microscopy. By synovia is meant the material lining joints and tendon sheaths on the interior of the fibrous capsule, including, therefore, synovial cells, loose connective tissue, blood vessels, and inflammatory cells which may be present. Several...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Brain
سال: 2003
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awg231