A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Aβ
- Y. Hashimoto, T. Niikura, I. Nishimoto
- Biology, ChemistryProceedings of the National Academy of Sciences…
- 22 May 2001
A gene is identified, designated Humanin (HN) cDNA, which encodes a short polypeptide and abolishes death of neuronal cells caused by multiple different types of familial Alzheimer's disease genes and by Aβ amyloid, without effect on death by Q79 or superoxide dismutase-1 mutants.
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage…
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease
‘dementia dominant’ and ‘limb weakness’ subtypes are reported, and consideration of NIID in the differential diagnosis of leukoencephalopathy and neuropathy is recommended.
Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients.
- Hirohisa Watanabe, Yufuko Saito, G. Sobue
- Medicine, PsychologyBrain : a journal of neurology
- 1 May 2002
The interval from initial symptom to combined motor and autonomic dysfunction can predict functional deterioration and survival in MSA, and the relationship between atrophy and functional status was highly variable among the individuals, suggesting that other factors influenced the functional deterioration.
The wide spectrum of clinical manifestations in Sjögren's syndrome-associated neuropathy.
Clinopathological observations suggest that sensory ataxic, painful and perhaps trigeminal neuropathy are related to ganglioneuronopathic process, whereas multiple mononeuropathy and multiple cranial neuropathy would be more closely associated with vasculitic process.
CREB-binding protein sequestration by expanded polyglutamine.
Evidence is presented that CREB-binding protein (CBP), a transcriptional co-activator that orchestrates nuclear response to a variety of cell signaling cascades, is incorporated into nuclear inclusions formed by polyglutamine-containing proteins in cultured cells, transgenic mice and tissue from patients with SBMA.
Testosterone Reduction Prevents Phenotypic Expression in a Transgenic Mouse Model of Spinal and Bulbar Muscular Atrophy
Amyotrophic lateral sclerosis
Two possible disease-modifying therapies that can slow disease progression are available for ALS, but patient management is largely mediated by symptomatic therapies, such as the use of muscle relaxants for spasticity and speech therapy for dysarthria.
Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.
Investigating the natural course of SBMA as assessed by nine activities of daily living (ADL) milestones in 223 Japanese SBMA patients found the levels of serum testosterone, an important triggering factor for polyglutamine-mediated motoneuron degeneration, were maintained at relatively high levels even at advanced ages.
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA
It is shown that TDP‐43 and FUS/TLS localize in nuclear Gems through an association with SMN, and that all three proteins function in spliceosome maintenance, indicating that a profound loss of spliceOSome integrity is a critical mechanism common to neurodegeneration in ALS and SMA and may explain cell‐type specific vulnerability of motor neurons.