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3.
IBRO Neurosci Rep ; 14: 77-79, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36618578

RESUMO

We explore a case of Benign Paroxysmal Positional Vertigo in the context of Persistent Hypoglossal Artery (PHA) and bilateral Madelung Deformity (MD). PHA is associated with a raft of major adverse cardiovascular events. MD can result from manifold conditions such as Turner's Syndrome and mesomelic dwarfism. In this case, the patient's positive family history of MD across generations is suggestive of inherited mutation in the Short Stature Homeobox (SHOX) Gene. We discuss the putative impact of SHOX on the genesis of Benign Paroxysmal Positional Vertigo (BPPV) in a patient with PHA and bilateral MD.

4.
Cureus ; 14(4): e23925, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35535285

RESUMO

Alexander the Great (356 BC - 323 BC) was only 20 years old when he was named the next King of Macedonia after his father was assassinated. The following 11 years witnessed the evolution of an outstanding leader who expanded his empire from Egypt to the Indian frontier. Despite successfully conquering much of the world, he was afflicted with a febrile illness at the age of 32, which he battled for a mere 11 days before perishing. It has been almost 2,400 years since his death, but the exact cause remains a mystery. Did he die of natural causes or at the hands of conspirators? Numerous papers have been written about the illnesses suffered by Alexander, with the current evidence revealing a healthy 32-year-old man who developed fever and acute abdominal pain with rapid deterioration of his general condition leading to death within a short duration. We analyze various theories and discuss possible etiologies that may have contributed to his tragic death. Information was gathered from primary and secondary sources found through searching multiple online academic databases and the University of Southern California (USC), University of California Los Angeles (UCLA), and Harvard libraries. Unreliable sources and the unavailability of Alexander's body for autopsy make reaching a definitive diagnosis an impossible task; however, based on existing information, we presume that he most probably died of a neurological cause due to acute necrotizing pancreatitis and encephalopathy secondary to peritonitis. Other potential causes include fulminant hepatic failure, acute demyelinating neuropathy or Guillain Barre Syndrome, and arsenic poisoning.

6.
Ann Clin Transl Neurol ; 7(11): 2320-2325, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33058507

RESUMO

Exome or genome sequencing was performed to identify the genetic etiology for the clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated families. A homozygous frameshift variant c.186delA (p.A63Qfs*3) in the NUDT2 gene was identified in cases 1 and 2 from one family and a third case from another family. Variants in NUDT2 were previously shown to cause intellectual disability, but here we expand the phenotype by demonstrating its association with distal upper and lower extremity weakness due to a sensorimotor polyneuropathy with demyelinating and/or axonal features.


Assuntos
Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Monoéster Fosfórico Hidrolases/genética , Polineuropatias/genética , Adulto , Criança , Deficiências do Desenvolvimento/diagnóstico , Eletroencefalografia , Eletromiografia , Feminino , Mutação da Fase de Leitura , Humanos , Deficiência Intelectual/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Linhagem , Polineuropatias/diagnóstico , Sequenciamento do Exoma , Adulto Jovem
7.
Cureus ; 12(6): e8517, 2020 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-32665875

RESUMO

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an inherited demyelinating neuropathy characterized by distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare form of CMT1 caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene. Phenotypically, CMT1C is characterized by sensory loss and slow conduction velocity, and is typically slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. A 42-year-old female presented with a 10-year history of slowly progressive bilateral calf pain and cramps. After multiple electromyography/nerve conduction studies (EMG/NCS) and genetic testing, the patient was revealed to have CMT1C with a heterozygous pathogenic variant, c.334G>A (p.Gly112Ser). However, the presentation of the patient's CMT1C phenotype was unusual compared to patients with similar diagnosis in a previous study, including a normal sensory exam with the exception of high arches and mildly reduced vibratory sense. Additionally, the patient's teenage son already started showing symptoms of CMT1C despite the fact that the onset of the disease typically occurs at an older age. This particular case further highlights the idea that the phenotype related to CMT1C may have a wide spectrum of disease severity.

11.
Emerg Infect Dis ; 25(11): 2128-2130, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31625861

RESUMO

In September 2018, an epizootic infection caused by canine distemper virus emerged in an Asiatic lion population in India. We detected the virus in samples from 68 lions and 6 leopards by reverse transcription PCR. Whole-genome sequencing analysis demonstrated the virus strain is similar to the proposed India-1/Asia-5 strain.


Assuntos
Doenças dos Animais/epidemiologia , Doenças dos Animais/virologia , Vírus da Cinomose Canina , Leões/virologia , Animais , Vírus da Cinomose Canina/genética , Genes Virais , Genoma Viral , Índia/epidemiologia
12.
Iran J Neurol ; 18(1): 25-32, 2019 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-31316733

RESUMO

Iran is an ancient country, known as the cradle of civilization. The history of medicine in Iran goes back to the existence of a human in this country, divided into three periods: pre-Islamic, medieval, and modern period. There are records of different neurologic terms from the early period, while Zoroastrian (religious) prescription was mainly used until the foundation of the first medical center (Gondishapur). In the medieval period, with the conquest of Islam, prominent scientists were taught in Baghdad, like Avicenna, who referred to different neurologic diseases including stroke, paralysis, tremor, and meningitis. Several outstanding scientists developed the medical science of neurology in Iran, the work of whom has been used by other countries in the past and present. In the modern era, the Iranian Neurological Association was established with the efforts of Professor Jalal Barimani in 1991.

13.
J Clin Neurosci ; 66: 269-270, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31178302

RESUMO

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with dysfunction of movement, memory, and the peripheral nervous system. We report an 82 years old male who presented with tremors and difficulty with balance that started at 65 years of age. His motor examination revealed decreased strength in left lower extremity. Tremors were seen in both the upper limbs at rest that worsened with movement. Bilateral lower extremities showed absent vibration and proprioception sensations, absent reflexes and upgoing toes. Electrodiagnostic studies revealed sensory predominant axonal sensory-motor peripheral polyneuropathy. Brain MRI revealed microvascular ischemic changes. The cervical and lumbar MRI showed diffuse degenerative changes. Genetic test for heritable causes of ataxia revealed a premutation in Fragile X gene (84 CGG repeats), confirming the diagnosis of FXTAS. On further genetic testing three out of his four daughters also tested positive for the FMR1 premutation. In appropriate clinical setting, Fragile X-associated tremor/ataxia syndrome (FXTAS) should be considered in every middle aged/elderly patient who presented with slowly progressive ataxia, tremor and peripheral polyneuropathy without any history of cognitive or neurological disabilities in childhood.


Assuntos
Ataxia/diagnóstico , Ataxia/genética , Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Tremor/diagnóstico , Tremor/genética , Idoso de 80 Anos ou mais , Testes Genéticos/métodos , Humanos , Masculino
14.
Curr Aging Sci ; 12(1): 28-34, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31161982

RESUMO

BACKGROUND: Aging is a complex irreversible process that is not only related to an individual's genetic make-up but also to lifestyle choices and environmental exposures. Like every other structure in human body, the Neuromuscular Junction (NMJ) is not averse to aging. OBJECTIVES: The prime objective is to analyse the microscopic and macroscopic changes at the NMJs with aging. METHODS: For the purpose of review we evaluated data from resources like Pubmed, Ovid, UCLA libraries and USC libraries. RESULTS: We review various morphological, physiological, immunological, and biochemical changes in NMJs with aging and their management. CONCLUSION: The alterations in NMJs secondary to aging are inevitable. It is vital that neurologists clearly understand the pathophysiology of NMJ aging and differentiate between physiological and pathological effects of aging. With the current knowledge of science, the changes in NMJ aging can be better prevented rather than cured.


Assuntos
Envelhecimento/fisiologia , Avaliação Geriátrica/métodos , Junção Neuromuscular/fisiopatologia , Prevenção Primária , Sinapses/metabolismo , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Animais , Bases de Dados Factuais , Feminino , Seguimentos , Humanos , Masculino , Camundongos , Biologia Molecular , Medição de Risco
15.
J Clin Neuromuscul Dis ; 20(4): 210-213, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31135625

RESUMO

GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme in sialic acid synthesis. This myopathy is prevalent in the Iranian Jewish (IJ) descendants because of a founder mutation GNE: p. M712T. We report a 52-year-old IJ woman who presented with a 20-year history of progressive distal muscle weakness. Physical examination and magnetic resonance imaging revealed lower-extremity weakness and atrophy. Electromyography confirmed myopathy. Genetic testing showed no mutations on the GNE gene. Muscle histochemistry demonstrated no rimmed vacuoles. The analysis of polysialylated neural cell adhesion molecule Western blot pattern was negative. Non-GNE myopathy with quadriceps sparing presentation has been previously described in a few cases of non-IJ descents. To the best of our knowledge, this is the first case of an IJ patient, presenting with quadriceps sparing myopathy, without associated GNE mutations and/or tubule-filamentous inclusions.


Assuntos
Miopatias Distais/diagnóstico , Debilidade Muscular/fisiopatologia , Miopatias Distais/diagnóstico por imagem , Miopatias Distais/fisiopatologia , Feminino , Humanos , Irã (Geográfico) , Judeus , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Debilidade Muscular/diagnóstico por imagem , Mutação , Músculo Quadríceps/diagnóstico por imagem , Músculo Quadríceps/fisiopatologia
16.
Acta Neurol Scand ; 139(1): 82-85, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30216413

RESUMO

BACKGROUND: To assess the utility of Magnetic Resonance Spectroscopy (MRS) as a biomarker of response to L-arginine in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). AIMS: To describe a case of MELAS treated with L-arginine that showed improvement clinically and on serial MRS METHODS: MRS was performed on a 1.5-Tesla scanner to evaluate a MELAS patient before, during, and after intravenous (IV) L-arginine therapy for the treatment of stroke-like episodes. L-arginine was infused at a dose of 500 mg/kg daily for 7 days followed by oral arginine therapy. RESULTS: The patient had clinical improvement after treatment with IV L-arginine. MRS performed before, during, and after treatment with IV L-arginine showed significant improvement in brain lactate and increase in the N-acetylaspartate/Choline (NAA/Cho) ratio compared to pre-treatment baseline. CONCLUSION: Serial MRS imaging showed significant improvement in lactate peaks and NAA/Cho ratios that corresponded with clinical improvement after L-arginine therapy. Given this correlation between radiologic and clinical improvement, MRS may be a useful biomarker assessing response to treatment in MELAS.


Assuntos
Encéfalo/diagnóstico por imagem , Síndrome MELAS/diagnóstico por imagem , Síndrome MELAS/tratamento farmacológico , Espectroscopia de Ressonância Magnética/métodos , Arginina/uso terapêutico , Ácido Aspártico/análogos & derivados , Ácido Aspártico/análise , Colina/análise , Feminino , Humanos , Síndrome MELAS/complicações , Pessoa de Meia-Idade , Acidente Vascular Cerebral/tratamento farmacológico , Acidente Vascular Cerebral/etiologia , Resultado do Tratamento
17.
Cureus ; 10(10): e3393, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-30533328

RESUMO

Sjögren's syndrome (SS) is a chronic autoimmune disorder, characterized by lymphocytic infiltration of exocrine glands and causing the decreased function of lacrimal and salivary glands. We describe a case of a 34-year-old male who presented with Sjögren's syndrome presenting as myopathy and sensorimotor neuropathy. His creatinine kinase levels were elevated with positive anti-Sjögren's syndrome-related antigen A autoantibodies and anti-Sjögren's syndrome Type B autoantibodies. Electromyography showed evidence of irritable myopathy. Parotid gland biopsy demonstrated focal lymphocytic sialadenitis. The patient favorably responded to high-dose steroids. Thus, although rare, inflammatory myopathy must be considered part of the initial presentation of Sjögren's syndrome.

18.
Neuropathology ; 38(6): 646-652, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30411412

RESUMO

Hydroxychloroquine (HCQ) and chloroquine are used worldwide for malaria as well as connective and rheumatological disorders. They have been reported to be linked to myopathy in patients. We report four patients who were receiving HCQ as part of treatment for connective tissue disorder and who presented with myopathy. The muscle biopsy in these patients was consistent with findings of HCQ toxicity. HCQ muscle toxicity is usually self-limiting after discontinuation of the drug. It also usually tends to be under-reported due to presence of various confounding factors. This warrants close monitoring and consideration of muscle biopsy as part of initial work up of patients who present with myopathy while receiving HCQ.


Assuntos
Antirreumáticos/efeitos adversos , Autofagia/efeitos dos fármacos , Hidroxicloroquina/efeitos adversos , Mitocôndrias/efeitos dos fármacos , Doenças Musculares/induzido quimicamente , Idoso , Doenças Autoimunes/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mitocôndrias/patologia
19.
Ann Indian Acad Neurol ; 21(2): 116-118, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30122835

RESUMO

The objective of this analysis is to study the life of Hans Gustav Wilhelm Steinert and his role in identifying several neurologic disorders including myotonic dystrophy (DM). DM type 1 (DM1) is a commonly inherited adult muscle disorder. In 1909, its characteristics were first described by Hans Steinert (1875-1911), a German neurologist. Born in Dresden, Germany, Steinert studied philosophy and medicine at the Universities of Leipzig, Berlin, Freiberg, and Kiel. There, under the supervision of Heinrich Curschmann, he accomplished his own works on aphthongia, cerebral muscular atrophy, and cerebral hemiplegia. In 1909, he published his study on six patients exhibiting characteristic myotonia. With autopsy findings of muscular fibrosis, Steinert identified this independent symptom complex as "Dystrophien Myotoniker" (DM). Overall, Steinert's accurate clinical characterization, coupled with the first ever autopsy finding of this condition, laid the foundations of our current understanding about DM1. This review serves as a tribute to the achievements of Hans Steinert and provides an opportunity to understand the historical perspective of DM1. Information for this analysis was gathered from PubMed and libraries at University of Southern California and University of California, Los Angeles. In addition, personal communications with Professor Benedikt Schoser at The University of Munich, Professor Tiemo Grimm at The University of Wuerzburg, and Professor Peter Harper at The University of Wales are acknowledged.

20.
JIMD Rep ; 41: 47-51, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29453517

RESUMO

Here, we present a case of a 31-year-old man with progressive cognitive decline, ataxia, and dystonia. Extensive laboratory, radiographic, and targeted genetic studies over the course of several years failed to yield a diagnosis. Initial whole exome sequencing through a commercial laboratory identified several variants of uncertain significance; however, follow-up clinical examination and testing ruled each of these out. Eventually, repeat whole exome sequencing identified a known pathogenic intronic variant in the NPC1 gene (NM_000271.4, c.1554-1009G>A) and an additional heterozygous exonic variant of uncertain significance in the NPC1 gene (NM_000271.4, c.2524T>C). Follow-up biochemical testing was consistent with a diagnosis of probable Niemann-Pick disease Type C (NP-C). This case illustrates the potential of whole exome sequencing for diagnosing rare complex neurologic diseases. It also identifies several potential common pitfalls that must be navigated by clinicians when interpreting commercial whole exome sequencing results.

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