keyword
MENU ▼
Read by QxMD icon Read
search

hereditary neuropathy

keyword
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#1
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28540323/neuroglobin-can-prevent-or-reverse-glaucomatous-progression-in-dba-2j-mice
#2
Hélène Cwerman-Thibault, Christophe Lechauve, Sébastien Augustin, Delphine Roussel, Élodie Reboussin, Ammara Mohammad, Julie Degardin-Chicaud, Manuel Simonutti, Hong Liang, Françoise Brignole-Baudouin, Anne Maron, Thomas Debeir, Marisol Corral-Debrinski
Mitochondrial dysfunction is responsible for hereditary optic neuropathies. We wished to determine whether preserving mitochondrial bioenergetics could prevent optic neuropathy in a reliable model of glaucoma. DBA/2J mice exhibit elevated intraocular pressure, progressive degeneration of their retinal ganglion cells, and optic neuropathy that resembles glaucoma. We established that glaucoma in these mice is directly associated with mitochondrial dysfunction: respiratory chain activity was compromised in optic nerves 5 months before neuronal loss began, and the amounts of some mitochondrial proteins were reduced in retinas of glaucomatous mice...
June 16, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28539873/pharmacological-stimulation-of-phagocytosis-enhances-amyloid-plaque-clearance-evidence-from-a-transgenic-mouse-model-of-attr-neuropathy
#3
Eleni Fella, Kleitos Sokratous, Revekka Papacharalambous, Kyriacos Kyriacou, Joy Phillips, Sam Sanderson, Elena Panayiotou, Theodoros Kyriakides
Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by deposition of aberrant transthyretin (TTR). Immunohistochemical examination of sural nerve biopsies in patients with amyloidotic neuropathy show co-aggregation of TTR with several proteins; including apolipoprotein E, serum amyloid P and components of the complement cascade. Complement activation and macrophages are increasingly recognized to play a crucial role in amyloidogenesis at the tissue bed level...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28538254/acute-demyelinating-polyneuropathy-as-presentation-of-hereditary-neuropathy-with-liability-to-pressure-palsies-in-a-patient-who-exercised-regularly-in-the-army
#4
Malathi Perugula, Gulshan Uppal, Miguel Chuquilin
Acute generalized neuropathy as the presenting manifestation of hereditary neuropathy with liability to pressure palsies (HNPP) is rare. We report a 19-year-old Army recruit who exercised regularly for 9 months and presented with 2 weeks of numbness, tingling, and weakness in both upper and lower extremities, starting 2 weeks after influenza vaccination and 1 day after vigorous exercise. Based on acute onset, clinical examination and electrophysiological findings, Guillain-Barre syndrome was diagnosed, and intravenous immunoglobulin was administered with minimal improvement...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28534044/hsp-and-deafness-neurocristopathy-caused-by-a-novel-mosaic-sox10-mutation
#5
Sandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, Ying Hu, Payam Mohassel, Ahmet Hoke, Wadih M Zein, Daniel Ezzo, Andrea M Atherton, Ann C Modrcin, Majed Dasouki, A Reghan Foley, Carsten G Bönnemann
OBJECTIVE: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. METHODS: Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inherited paternal mosaic mutation was further evaluated through quantitative analysis of the ratio of mutant vs wild-type allele in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28530322/-oro-dento-facial-manifestations-in-patients-with-familial-dysautonomia
#6
REVIEW
Eliyahu Mass
The oro-dento-facial features and dysfunctions of children with hereditary sensory and autonomic neuropathy type III (HSAN III), known as familial dysautonomia (FD) or Riley-Day syndrome, were first described in the scientific literature in 1949. They include: dental trauma, dental and soft tissue selfmutilation, normal dental age, normal sequence and timing of eruption and exfoliation of teeth, smaller tooth size, different and disproportional tooth components, normal alveolar bone height, small jaws, mild crowding and malocclusion...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28528823/presymptomatic-visual-loss-in-leber-hereditary-optic-neuropathy-a%C3%A2-therapeutic-window-of-opportunity
#7
EDITORIAL
John J Chen, Michael C Brodsky
No abstract text is available yet for this article.
June 2017: Ophthalmology
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#8
Josef Finsterer, Fulvio Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28512503/massive-oculomotor-nerve-enlargement-a-case-of-presumed-schwannomatosis
#9
Laura Donaldson, Ryan Rebello, Amadeo Rodriguez
A 45-year-old man presented with a slowly progressive pupil-involving third nerve palsy. Magnetic resonance imaging (MRI) revealed a tubular lesion extending from the interpeduncular cistern through the cavernous sinus and into the left orbit where it branched into a superior and an inferior division, clearly outlining the anatomy of the third cranial nerve. Multiple other, less pronounced, enlarged cranial nerves were noted. The differential diagnosis included chronic inflammatory demyelinating polyneuropathy (CIDP), hereditary motor and sensory neuropathy (HMSN), neurofibromatosis (NF), and schwannomatosis...
June 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28493141/therapeutic-strategies-in-adrenoleukodystrophy
#10
Bela R Turk, Ann B Moser, Ali Fatemi
Adrenoleukodystrophy (ALD) is an X‑linked hereditary disorder due to mutations of the ABCD1 gene, which encodes a peroxisomal transport protein necessary for very long-chain fatty acid degradation (VLCFA). Toxic accumulation thereof is associated with a proinflammatory state and eventual cell death in multiple tissues. ALD may manifest either as a fatal, rapidly progressive demyelinating disease in boys and adult men, or as a slowly progressive adult-onset long-tract myelopathy along with peripheral neuropathy...
May 10, 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28490654/early-skin-denervation-in-hereditary-and-iatrogenic-transthyretin-amyloid-neuropathy
#11
Teruaki Masuda, Mitsuharu Ueda, Genki Suenaga, Yohei Misumi, Masayoshi Tasaki, Ayane Izaki, Yukako Yanagisawa, Yasuteru Inoue, Hiroaki Motokawa, Sayaka Matsumoto, Mayumi Mizukami, Aiko Arimura, Takahisa Deguchi, Yoshihiko Nishio, Taro Yamashita, Yukihiro Inomata, Konen Obayashi, Yukio Ando
OBJECTIVE: To elucidate early skin denervation in hereditary transthyretin (TTR) amyloidosis and iatrogenic TTR amyloidosis. METHODS: We investigated intraepidermal nerve fiber density (IENFD) and clinical findings in 32 patients with hereditary TTR amyloidosis, 11 asymptomatic mutation carriers, 6 patients with iatrogenic TTR amyloidosis, and 23 healthy volunteers. RESULTS: IENFD values were reduced in patients with the V30M mutation (1.9 ± 2...
May 10, 2017: Neurology
https://www.readbyqxmd.com/read/28489810/a-case-report-of-hereditary-neuropathy-with-liability-to-pressure-palsies-accompanied-by-type-2-diabetes-mellitus-and-psoriasis
#12
Jing Li, Bing Niu, Xiaoling Wang, Huaiqiang Hu, Bingzhen Cao
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28471035/arl6ip1-mutation-causes-congenital-insensivity-to-pain-self-mutilation-and-spastic-paraplegia
#13
Mathilde Nizon, Sébastien Küry, Yann Péréon, Thomas Besnard, Delphine Quinquis, Pierre Boisseau, Thierry Marsaud, Armelle Magot, Jean-Marie Mussini, Emmanuelle Mayrargue, Sébastien Barbarot, Stéphane Bézieau, Bertrand Isidor
Hereditary sensory neuropathies (HSAN) type II are characterized by autosomal recessive inheritance, onset at birth and self-mutilating behavior. Here, we described a new patient with congenital insensitivity to pain, sensory neuropathy, self-mutilation, and spastic paraplegia. Whole exome sequencing showed a homozygous frameshift variant c.[577_580del], p.(Lys193Phefs*37) in ARL6IP1. The protein harbours reticulon-like short hairpin transmembrane domains and has a role in endoplasmic reticulum shaping. The variant causes an additional C-terminus hydrophobic domain which could disrupt its function...
May 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28468842/novel-mutations-in-dystonin-provide-clues-to-the-pathomechanisms-of-hsan-vi
#14
Fiore Manganelli, Silvia Parisi, Maria Nolano, Feifei Tao, Simona Paladino, Chiara Pisciotta, Stefano Tozza, Claudia Nesti, Adriana P Rebelo, Vincenzo Provitera, Filippo M Santorelli, Michael E Shy, Tommaso Russo, Stephan Zuchner, Lucio Santoro
OBJECTIVE: To describe a second hereditary sensory autonomic neuropathy type VI (HSAN-VI) family harboring 2 novel heterozygous mutations in the dystonin (DST) gene and to evaluate their effect on neurons derived from induced pluripotent stem cells (iPSC). METHODS: The family consisted of 3 affected siblings from nonconsanguineous healthy parents. All members underwent clinical and electrophysiologic evaluation and genetic analysis. Two patients underwent quantitative sensory testing (QST), cardiovascular reflexes, dynamic sweat test, and skin biopsy to evaluate somatic and autonomic cutaneous innervation and to get fibroblast cultures for developing iPSC-derived neurons...
May 3, 2017: Neurology
https://www.readbyqxmd.com/read/28466468/loss-of-dynamin-2-gtpase-function-results-in-microcytic-anaemia
#15
Fiona C Brown, Michael Collett, Cedric S Tremblay, Gerhard Rank, Pietro De Camilli, Carmen J Booth, Marc Bitoun, Phillip J Robinson, Benjamin T Kile, Stephen M Jane, David J Curtis
In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. The V235G mutation lies within a crucial GTP nucleotide-binding pocket of Dnm2, and resulted in defective GTPase activity and incompatibility with life in the homozygous state...
May 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28459737/vision-loss-and-symmetric-basal-ganglia-lesions-in-leber-hereditary-optic-neuropathy
#16
Matthew A Mercuri, Halina White, Cristiano Oliveira
A 30-year-old woman with progressive vision loss was found to have asymptomatic, bilateral, and symmetric basal ganglia lesions on MRI and was later diagnosed with Leber hereditary optic neuropathy (LHON). The rare occurrence of basal ganglia changes on MRI in patients with LHON is discussed.
April 28, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28455970/mitochondrial-replacement-in-an-ipsc-model-of-leber-s-hereditary-optic-neuropathy
#17
Raymond C B Wong, Shiang Y Lim, Sandy S C Hung, Stacey Jackson, Shahnaz Khan, Nicole J Van Bergen, Elisabeth De Smit, Helena H Liang, Lisa S Kearns, Linda Clarke, David A Mackey, Alex W Hewitt, Ian A Trounce, Alice Pébay
Cybrid technology was used to replace Leber hereditary optic neuropathy (LHON) causing mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA, and mutation-free induced pluripotent stem cells (iPSCs) were generated subsequently. Retinal ganglion cell (RGC) differentiation demonstrates increased cell death in LHON-RGCs and can be rescued in cybrid corrected RGCs.
April 2017: Aging
https://www.readbyqxmd.com/read/28444329/the-eye-drop-preservative-benzalkonium-chloride-potently-induces-mitochondrial-dysfunction-and-preferentially-affects-lhon-mutant-cells
#18
Sandipan Datta, Christophe Baudouin, Francoise Brignole-Baudouin, Alexandre Denoyer, Gino A Cortopassi
Purpose: Benzalkonium chloride (BAK) is the most commonly used eye drop preservative. Benzalkonium chloride has been associated with toxic effects such as "dry eye" and trabecular meshwork degeneration, but the underlying biochemical mechanism of ocular toxicity by BAK is unclear. In this study, we propose a mechanistic basis for BAK's adverse effects. Method: Mitochondrial O2 consumption rates of human corneal epithelial primary cells (HCEP), osteosarcoma cybrid cells carrying healthy (control) or Leber hereditary optic neuropathy (LHON) mutant mtDNA [11778(G>A)], were measured before and after acute treatment with BAK...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28439028/bgp-15-prevents-the-death-of-neurons-in-a-mouse-model-of-familial-dysautonomia
#19
Sarah B Ohlen, Magdalena L Russell, Michael J Brownstein, Frances Lefcort
Hereditary sensory and autonomic neuropathy type III, or familial dysautonomia [FD; Online Mendelian Inheritance in Man (OMIM) 223900], affects the development and long-term viability of neurons in the peripheral nervous system (PNS) and retina. FD is caused by a point mutation in the gene IKBKAP/ELP1 that results in a tissue-specific reduction of the IKAP/ELP1 protein, a subunit of the Elongator complex. Hallmarks of the disease include vasomotor and cardiovascular instability and diminished pain and temperature sensation caused by reductions in sensory and autonomic neurons...
May 9, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28438772/severe-vincristine-induced-polyneuropathy-in-a-teenager-with-anaplastic-medulloblastoma-and-undiagnosed-charcot-marie-tooth-disease
#20
Yasmin Aghajan, Janet M Yoon, John Ross Crawford
Severe neuropathy is a known adverse effect of vincristine in patients with Charcot-Marie-Tooth disease (CMT). We present the case of a 16-year-old girl with anaplastic medulloblastoma treated with gross total resection and high-dose craniospinal radiation with adjuvant vincristine chemotherapy who developed acute-onset severe quadriplegia and vocal cord paralysis. Vincristine and radiation therapy were discontinued. Although her neuropathy slowly improved over several weeks, she developed metastatic extraneural medulloblastoma and died 5 months after diagnosis...
April 24, 2017: BMJ Case Reports
keyword
keyword
74579
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"