Results 111 to 120 of about 600,045 (285)

Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings

The Turkish Journal of Pediatrics, 2011
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations. BBS is predominantly characterized by dysmorphic distal extremities, obesity, structural abnormalities or functional impairment of ...
Ayşe Aksoy, Gülay Karagüzel, Ulaş Akbulut, Adem Türk   +3 more
doaj  

Multiple-System Atrophy with Cerebellar Predominance Presenting as Respiratory Insufficiency and Vocal Cords Paralysis

Case Reports in Medicine, 2010
Background. MSA (Multiple System Atrophy) may be associated either with Parkinsonism or with cerebellar ataxia (MSA-c subtype). It is considered a rare disease, but many patients are misdiagnosed as suffering from idiopathic Parkinson's disease.
Ramon Andrade Bezerra de Mello, Diana Ferreira, José Manuel Dias da Costa, Maria José Rosas, João Manuel Quinaz   +4 more
doaj   +1 more source

Altered cerebellar morphological similarity network correlates with cognitive decline and cerebrospinal fluid biomarkers in mild Alzheimer’s disease: a 7 T MRI study

Brain Research Bulletin
Backgroud: Recent neuroimaging research emphasized cerebellar atrophy and alternation of functional connections in Alzheimer’s disease (AD), fewer studies have focus on the cerebellar subfield and its structural network reorganization.
Weiwei Zhang, Haokun Liu, Long Qian, Cong Zhang, Dongcui Wang, Keying Fang, Ruiting Chen, Bin Jiao, Lu Shen, Weihua Liao   +9 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan

Annals of Clinical and Translational Neurology
Background and Objectives The GAA repeat expansion within the fibroblast growth factor 14 (FGF14) gene has been found to be associated with late‐onset cerebellar ataxia.
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Fumikazu Kojima, Yuki Yamanishi, Yasuhiro Aso, Kotaro Izumi, Minako Imada, Yoshimitsu Maki, Hiroto Nakagawa, Takahiro Hobara, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Hiroshi Takashima   +20 more
doaj   +1 more source

Anatomical abnormalities suggest a compensatory role of the cerebellum in early Parkinson's disease

NeuroImage
Brain atrophy is detected in early Parkinson's disease (PD) and accelerates over the first few years post-diagnosis. This was captured by multiple cross-sectional studies and a few longitudinal studies in early PD.
Juyoung Jenna Yun, Anastasia Gailly de Taurines, Yen F Tai, Shlomi Haar   +3 more
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Dendritic spike induction of postsynaptic cerebellar LTP [PDF]

, 2008
The architecture of parallel fiber (PF) axons contacting cerebellar Purkinje neurons (PNs) retains spatial information over long distances. PF synapses can trigger local dendritic calcium spikes, but whether and how this calcium signal leads to plastic ...
Marco Canepari, Kaspar E. Vogt
core  

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source