keyword
MENU ▼
Read by QxMD icon Read
search

Hereditary Sensory Neuropathy

keyword
https://www.readbyqxmd.com/read/29289840/founder-mutation-in-ikbkap-gene-causes-vestibular-impairment-in-familial-dysautonomia
#1
Joel V Gutiérrez, Horacio Kaufmann, Jose-Alberto Palma, Carlos Mendoza-Santiesteban, Vaughan G Macefield, Lucy Norcliffe-Kaufmann
OBJECTIVE: To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy - caused by a mutation in the IKBKAP gene (c.2204 + 6 T>C) - and characterized by marked gait ataxia. METHODS: Cervical and vestibular evoked myogenic potentials (cVEMPs and oVEMPs) were recorded from the sternocleidomastoid (SCM) and extraocular muscles in 14 homozygous patients, 2 heterozygous patients, and 15 healthy controls during percussion of the forehead...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29243538/antineoplastic-agents-exacerbating-charcot-marie-tooth-disease-red-flags-to-avoid-permanent-disability
#2
M J Ibañez-Juliá, G Berzero, G Reyes-Botero, T Maisonobe, T Lenglet, M Slim, S Louis, A Balaguer, M Sanson, E Le Guern, P Latour, D Ricard, T Stojkovic, D Psimaras
BACKGROUND: Charcot Marie Tooth (CMT) disease is the most common form of hereditary neuropathy. Due to the high prevalence of mild and undiagnosed forms, patients with CMT disease may be exposed to severe neurotoxicity following the administration of neurotoxic chemotherapies. The aim of this report is to alert oncologists to the potential to precipitate severe irreversible peripheral neuropathies when administering neurotoxic compounds to undiagnosed CMT patients. MATERIAL AND METHODS: A retrospective research in the OncoNeuroTox database was performed (2010-2016), searching for patients with the diagnosis of chemotherapy-induced peripheral neuropathy (CIPN) and CMT disease...
December 15, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29226326/retreg1-fam134b-a-new-player-in-human-diseases-15-years-after-the-discovery-in-cancer
#3
REVIEW
Farhadul Islam, Vinod Gopalan, Alfred King-Yin Lam
FAM134B (family with sequence similarity 134, member B) / RETREG1 and its functional roles are relatively new in human diseases. This review aimed to summarize various functions of FAM134B since our first discovery of the gene in 2001. The protein encoded by FAM134B is a reticulophagy receptor that regulates turnover of the endoplasmic reticulum (ER) by selective phagocytosis. Absence or non-functional expression of FAM134B protein impairs ER-turnover and thereby is involved in the pathogenesis of some human diseases...
December 11, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29187684/-a-case-of-hereditary-sensory-and-autonomic-neuropathy-type-1e-with-frontal-lobe-dysfunction-as-an-initial-symptom
#4
Masashi Watanabe, Yushi Matsumoto, Kensho Okamoto, Bungo Okuda, Ikuko Mizuta, Toshiki Mizuno
A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings...
November 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29185050/practically-applicable-nerve-ultrasound-models-for-the-diagnosis-of-axonal-and-demyelinating-hereditary-motor-and-sensory-neuropathies-hmsn
#5
Kai F Loewenbrück, Markus Dittrich, Josef Böhm, Jürgen Klingelhöfer, Petra Baum, Jochen Schäfer, Heinz Reichmann, Andreas Hermann, Alexander Storch
PURPOSE: To develop specific diagnostic ultrasound (US) models for hereditary motor and sensory neuropathies (HMSN) in patients with primarily demyelinating or axonal polyneuropathies (PNP) according to standard nerve conduction studies (NCS) criteria. METHODS: Single-centre, examiner-blinded cross-sectional study in acquired PNP (consecutive recruitment strategy) and HMSN patients (convenience sample). Allocation into demyelinating or axonal phenotype via easily applicable NCS criteria...
November 28, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29180453/a-hereditary-spastic-paraplegia-associated-atlastin-variant-exhibits-defective-allosteric-coupling-in-the-catalytic-core
#6
John P O'Donnell, Laura J Byrnes, Richard B Cooley, Holger Sondermann
The dynamin-related GTPase atlastin (ATL) catalyzes membrane fusion of the endoplasmic reticulum (ER) and thus establishes a network of branched membrane tubules. When ATL function is compromised, the morphology of the ER deteriorates, and these defects can result in neurological disorders such as hereditary spastic paraplegia (HSP) and hereditary sensory neuropathy (HSN). ATLs harness the energy of GTP hydrolysis to initiate a series of conformational changes that enable homodimerization and subsequent membrane fusion...
November 27, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29159194/multigeneration-family-with-dominant-spg30-hereditary-spastic-paraplegia
#7
Ricardo H Roda, Alice B Schindler, Craig Blackstone
Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three generations with pure HSP. A heterozygous p.Ser69Leu KIF1A mutation segregates with those afflicted. The same variant was previously reported in a Finnish father and son with pure HSP as well as four members of a Sicilian kindred with more intrafamilial phenotypic variability...
November 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29153916/a-case-with-cmtx1-disease-showing-transient-ischemic-attack-like-episodes
#8
Zehra Aktan, Nihan Hande Akcakaya, Pinar Tekturk, Engin Deniz, Bahar Koyuncu, Zuhal Yapici
Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents...
November 9, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29129380/evaluation-of-activities-of-daily-living-in-patients-with-slowly-progressive-neuromuscular-diseases
#9
Katarzyna Bienias, Joanna Ścibek, Joanna Cegielska, Jan Kochanowski
Slowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and limb-girdle muscular dystrophy (LGMD), hereditary motor and sensory neuropathy (HMSN) and spinal muscular atrophy type III (SMA3). The purpose of this study is to present an evaluation of basic and complex activities of daily living in patients suffering from these diseases. The study was conducted on a group of 58 Polish patients: 25 patients with HMSN, 19 with LGMD and FSHD and 14 with SMA3...
October 27, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29124833/a-nonstop-variant-in-reep1-causes-peripheral-neuropathy-by-unmasking-a-3-utr-encoded-aggregation-inducing-motif
#10
Andrea S Bock, Sven Günther, Julia Mohr, Lisa V Goldberg, Amir Jahic, Cornelia Klisch, Christian A Hübner, Saskia Biskup, Christian Beetz
Single nucleotide variants that abolish the stop codon ('nonstop' alterations) are a unique type of substitution in genomic DNA. Whether they confer instability of the mutant mRNA or result in expression of a C-terminally extended protein depends on the absence or presence of a downstream in-frame stop codon, respectively. Of the predicted protein extensions, only few have been functionally characterized. In a family with autosomal dominant Charcot-Marie-Tooth disease type 2, i.e. an axonopathy affecting sensory neurons as well as lower motor neurons, we identified a heterozygous nonstop variant in REEP1...
November 9, 2017: Human Mutation
https://www.readbyqxmd.com/read/29108667/clinical-electrophysiological-genetic-and-imaging-features-of-six-chinese-han-patients-with-hereditary-neuropathy-with-liability-to-pressure-palsies-hnpp
#11
Bin Chen, Songtao Niu, Xingao Wang, Wei Li, Na Chen, Zaiqiang Zhang
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy caused by mutations in the peripheral myelin protein 22 (PMP22) gene. This study summarizes the clinical, electrophysiological, genetic, and imaging features of six unrelated Chinese Han patients with HNPP. Age of onset was within the second decade in five patients, and 46 years of age in one patient. Weakness or numbness in a unilateral lower extremity was the most common symptom in 5 patients, and bilateral sensorineural hearing loss was also detected in one patient...
November 3, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29078790/hereditary-neuropathy-with-liability-to-pressure-palsy-hnpp-report-of-a-family-with-a-new-point-mutation-in-pmp22-gene
#12
Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
BACKGROUND: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations. CASE PRESENTATION: We report on a familial case harbouring a new point mutation in the PMP22 gene...
October 27, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29077663/anesthetic-management-of-a-patient-with-de-novo-hereditary-sensory-and-autonomic-neuropathy-type-vii-a-case-report
#13
Lorenzo Rafer, James Mooney
An 18-month-old patient with hereditary sensory and autonomic neuropathy, type VII undergoing general anesthesia for Nissen fundoplication and gastrostomy tube is presented. This is the first reported case of a patient with this particular genetic mutation receiving general anesthesia. We presented the major intraoperative events during the procedure. The anesthetic considerations and implications of caring for a patient with this particular mutation and patients with other variations of hereditary sensory and autonomic neuropathy are also discussed...
October 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29070749/a-amyotrophic-lateral-sclerosis-als-4-family-misdiagnosed-as-hereditary-spastic-paraplegia-a-case-report
#14
Takaki Taniguchi, Youichi Hokezu, Takashi Okada, Masato Ishibashi, Akihiro Hashiguchi, Eiji Matsuura, Hiroshi Takashima
We report a 44 years old man with slowly progressive muscular atrophy of the extremities for over 30 years. He experienced difficulty in walking in his 10's and was diagnosed as hereditary spastic paraplegia (HSP) in his 20's. And then, muscle atrophy of the extremities slowly progressed especially in his distal muscles. Sensory axonal neuropathy was detected with sural nerve biopsy. His father and uncle have been diagnosed as HSP in their early days. His father noticed weakness of his leg in his 20's. He lost motor function of the leg in his 60's...
October 26, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29061384/motoneuron-degeneration-in-the-trigeminal-motor-nucleus-innervating-the-masseter-muscle-in-dystonia-musculorum-mice
#15
M Ibrahim Hossain, Masao Horie, Nozomu Yoshioka, Masayuki Kurose, Kensuke Yamamura, Hirohide Takebayashi
Dystonia musculorum (dt) mice, which have a mutation in the Dystonin (Dst) gene, are used as animal models to investigate the human disease known as hereditary sensory and autonomic neuropathy type VI. Massive neuronal cell death is observed, mainly in the peripheral nervous system (PNS) of dt mice. We and others have recently reported a histopathological feature of these mice that neurofilament (NF) accumulates in various areas of the central nervous system (CNS), including motor pathways. Although dt mice show motor disorder and growth retardation, the causes for these are still unknown...
October 20, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/29042446/clinical-and-metabolic-consequences-of-l-serine-supplementation-in-hereditary-sensory-and-autonomic-neuropathy-type-1c
#16
Mari Auranen, Jussi Toppila, Saranya Suriyanarayanan, Museer A Lone, Anders Paetau, Henna Tyynismaa, Thorsten Hornemann, Emil Ylikallio
Hereditary sensory neuropathy type 1 (HSAN1) may be the first genetic neuropathy amenable to a specific mechanism-based treatment, as L-serine supplementation can be used to lower the neurotoxic levels of 1-deoxysphingolipids (1-deoxySL) that cause the neurodegeneration. The treatment is so far untested in HSAN1C caused by variants in the serine palmitoyl transferase subunit 2 (SPTLC2) gene. The aim of this study was to establish whether oral L-serine lowers 1-deoxySL in a patient with HSAN1C, to perform a dose escalation to find the minimal effective dose, and to assess the safety profile and global metabolic effects of the treatment...
October 17, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29026155/trk-fused-gene-tfg-regulates-pancreatic-%C3%AE-cell-mass-and-insulin-secretory-activity
#17
Takeshi Yamamotoya, Yusuke Nakatsu, Akifumi Kushiyama, Yasuka Matsunaga, Koji Ueda, Yuki Inoue, Masa-Ki Inoue, Hideyuki Sakoda, Midori Fujishiro, Hiraku Ono, Hiroshi Kiyonari, Hisamitsu Ishihara, Tomoichiro Asano
The Trk-fused gene (TFG) is reportedly involved in the process of COPII-mediated vesicle transport and missense mutations in TFG cause several neurodegenerative diseases including hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P). The high coincidence ratio between HMSN-P and diabetes mellitus suggests TFG to have an important role(s) in glucose homeostasis. To examine this possibility, β-cell specific TFG knockout mice (βTFG KO) were generated. Interestingly, βTFG KO displayed marked glucose intolerance with reduced insulin secretion...
October 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28991715/clinical-and-pathological-findings-in-familial-amyloid-polyneuropathy-caused-by-a-transthyretin-e61k-mutation
#18
Tatsufumi Murakami, Hirotake Nishimura, Taiji Nagai, Shoji Hemmi, Yumiko Kutoku, Yutaka Ohsawa, Yoshihide Sunada
Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. The pathogenesis of this neuropathy remains unknown, although several mechanisms, including mechanical compression, vessel occlusion, TTR toxicity and Schwann cell dysfunction have been proposed. We describe a patient with late-onset FAP caused by a TTR E61K mutation...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28902413/frequent-genes-in-rare-diseases-panel-based-next-generation-sequencing-to-disclose-causal-mutations-in-hereditary-neuropathies
#19
Maike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Erik Riesch, Andrea Becker, Florian Battke, Konstanze Hörtnagel, Thorsten Hornemann, Saranya Suriyanarayanan, Markus Blankenburg, Jörg B Schulz, Kristl G Claeys, Burkhard Gess, Istvan Katona, Andreas Ferbert, Debora Vittore, Alexander Grimm, Stefan Wolking, Ludger Schöls, Holger Lerche, G Christoph Korenke, Dirk Fischer, Bertold Schrank, Urania Kotzaeridou, Gerhard Kurlemann, Bianca Dräger, Anja Schirmacher, Peter Young, Beate Schlotter-Weigel, Saskia Biskup
Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid neuropathy, or small fiber neuropathy using a customized multigene panel based on the next generation sequencing technique. In 121 cases (19.8%), we identified at least one putative pathogenic mutation. Of these, 54.4% showed an autosomal dominant, 33.9% an autosomal recessive, and 11...
December 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28834584/a-de-novo-dominant-mutation-in-kif1a-associated-with-axonal-neuropathy-spasticity-and-autism-spectrum-disorder
#20
Pedro J Tomaselli, Alexander M Rossor, Alejandro Horga, Matilde Laura, Julian C Blake, Henry Houlden, Mary M Reilly
Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a de novo dominant missense variant, (c.38G>A, p.R13H), within an ATP binding site of the kinesin motor domain in a patient manifesting a complex phenotype characterized by autism spectrum disorder (ASD), spastic paraplegia and axonal neuropathy...
August 23, 2017: Journal of the Peripheral Nervous System: JPNS
keyword
keyword
97213
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"