However, hypomyelination is not always present, and atypical MRI patterns are described (57, 58). Cerebellar atrophy and thinning of the corpus callosum are commonly present (9, 59). [neuro.psychiatryonline.org]

He presents a picture of affection to both median nerves of the wrists without there being a previous traumatic event. We speak with the Spanish surgeon about this, before the presentation of his conclusions in the USA. Dr. [drpinal.com]

Typically, the signal abnormalities were predominantly present in the frontal and parietal periventricular and deep white matter, sparing a segment of white matter in between. [ncbi.nlm.nih.gov]

• Weakness

  POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. [ncbi.nlm.nih.gov]

  Neuron, Neurona, Pedigree, Pedigrí, Séquence nucléotide, Nucleotide sequence, Secuencia nucleótido, Séquençage, and Sequencing Abstract Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness [searchworks.stanford.edu]

• Movement Disorder

  We acknowledge the “Cell lines and DNA Bank of Paediatric Movement Disorders and Neurodegenerative Diseases” of the Telethon Network of Genetic Biobanks (grant GTB12001J) and the EuroBioBank Network. [ncbi.nlm.nih.gov]

  […] symptoms, movement disorders, ataxia, and upper-motor neuron signs. [neuro.psychiatryonline.org]

• Impaired Balance

  She achieved walking without support at 3, but with impaired balance. Her condition remained stable until age 15, when she developed progressive gait ataxia, tremor, cognitive deterioration, and psychosis. [ncbi.nlm.nih.gov]

• Vomiting

  Complications associated with specific chemotherapeutic regimens (e.g., hair loss, nausea and vomiting, anemia, neutropenia, and low platelets) are explained to the patient, along with management strategies that will be employed. [medical-dictionary.thefreedictionary.com]

  A viral gastroenteritis was followed by abrupt mental decline, unintelligible speech, inability to eat due to choking, recurrent vomiting, and inability to walk because of worsening of ataxia and spasticity, left more than right. [ncbi.nlm.nih.gov]

• Choking

  A viral gastroenteritis was followed by abrupt mental decline, unintelligible speech, inability to eat due to choking, recurrent vomiting, and inability to walk because of worsening of ataxia and spasticity, left more than right. [ncbi.nlm.nih.gov]

• Nausea

  Complications associated with specific chemotherapeutic regimens (e.g., hair loss, nausea and vomiting, anemia, neutropenia, and low platelets) are explained to the patient, along with management strategies that will be employed. [medical-dictionary.thefreedictionary.com]

• Muscle Weakness

  POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. [ncbi.nlm.nih.gov]

• Suggestibility

  MD, PhD, Massimo Zeviani, MD, PhD, Adeline Vanderver, MD,‡ Daniele Ghezzi, PhD,‡ and Marjo S. van der Knaap, MD‡ Abstract Objectives: The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype suggestive [ncbi.nlm.nih.gov]

  The involvement of the external capsules and poles of the temporal lobes is highly suggestive of the disease (Figure 1) (87). [neuro.psychiatryonline.org]

  Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by raremutationsinSOX17. [searchworks.stanford.edu]

• Urinary Incontinence

  At age 33, she developed depression, cognitive deterioration, behavioral problems with signs of frontal dysfunction, and urinary incontinence. [ncbi.nlm.nih.gov]

  In the following months, she developed urinary incontinence. A second MRI documented severely confluent and symmetric cerebral and cerebellar leukoencephalopathy and moderate cerebral atrophy. [neuro.psychiatryonline.org]

• Primary Amenorrhea

  All reported females had primary or secondary amenorrhea resulting from ovarian failure (37–39). [neuro.psychiatryonline.org]

  All 5 female patients had primary or secondary amenorrhea due to ovarian failure. P1 and P6 were the only patients extensively investigated for a possible mitochondrial defect. [ncbi.nlm.nih.gov]

• Dystonia

  Around age 17, deterioration set in with bilateral dystonia and spasticity, dysarthria, and cognitive decline. [ncbi.nlm.nih.gov]

  Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature. [neuro.psychiatryonline.org]

  We further expand the phenotypic spectrum of KMT2B-related disorders and show that some individuals can have severe developmental delay without dystonia at least until mid-childhood. [searchworks.stanford.edu]

• Gait Ataxia

  The patient also displayed truncal and gait ataxia. [neuro.psychiatryonline.org]

  The latest neurologic examination at age 30 revealed severe cerebellar ataxia with nystagmus, dysarthria, intention tremor, and instable gait. She could walk with support. [ncbi.nlm.nih.gov]

• Behavior Problem

  At age 33, she developed depression, cognitive deterioration, behavioral problems with signs of frontal dysfunction, and urinary incontinence. [ncbi.nlm.nih.gov]

  His initial symptoms began in late childhood and manifested as severe behavioral problems marked by aggressiveness and defiance. [neuro.psychiatryonline.org]

• Apraxia

  She developed stereotyped motor behavior and severe apraxia. At age 35, she did not recognize family members anymore. She had to be tube fed. Antiepileptic medication was started because of epileptic seizures. [ncbi.nlm.nih.gov]

• Clumsiness

  In primary school, mild clumsiness and learning difficulties were a concern. [ncbi.nlm.nih.gov]

In this context, she was referred to our team for an opinion and workup. On clinical examination at the age of 45, the patient exhibited severe anxiety and emotional lability and provided limited insight into her symptoms. [neuro.psychiatryonline.org]

The timing of treatment and the prognosis in CLL depend on the stage of the disease. [medical-dictionary.thefreedictionary.com]

Treatment-resistant schizophrenia: current insights on the pharmacogenomics of antipsychotics. [neuro.psychiatryonline.org]

There is no specific treatment available except for the “prevention of cellular stress”. Corticosteroids have sometimes been beneficial in the acute phases. [em-consulte.com]

[…] not correlated with treatments or outcomes significantly different than random simulation. [searchworks.stanford.edu]

Let’s say that it is a way to ‘label’ the patient when our diagnostic capabilities and, therefore, of offering adequate treatment, are overcome. [drpinal.com]

Prognosis seems to be correlated with age at onset, the earlier forms being more severe. 35 references. Plan © 2007 Elsevier Masson SAS. Tous droits réservés. Bienvenue sur EM-consulte, la référence des professionnels de santé. [em-consulte.com]

The timing of treatment and the prognosis in CLL depend on the stage of the disease. [medical-dictionary.thefreedictionary.com]

Given the small number of reported cases, the prognosis has not yet been determined, but life expectancy is not significantly reduced (17). [neuro.psychiatryonline.org]

Etiology Genetic and chromosomal aberrations, such as are found in other leukemias, are characteristic. [medical-dictionary.thefreedictionary.com]

Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. [searchworks.stanford.edu]

Clinical Features and Elements of Family History That May Suggest an Inherited White Matter Etiology Atypical response to treatment. [neuro.psychiatryonline.org]

Orcesi,18 Marjan E Steenweg,1,2 Carola G M van Berkel,1 Quinten Waisfisz,4 Truus E M Abbink,1,2 Marjo S van der Knaap,1,2,19 Grace M Hobson,3,20,21,b and Nicole I Wolf1,2,b Abstract Objective The objective of this study was to investigate the genetic etiology [ncbi.nlm.nih.gov]

Subjects Genetics(clinical), Genetics, Medicine, business.industry, business, Genotype, Internal medicine, medicine.medical_specialty, Oncology, Genetic epidemiology, SDHD, Paraganglioma, medicine.disease, Penetrance, SDHB, Germline mutation, Missense [searchworks.stanford.edu]

J Neurol Neurosurg Psychiatry 2014; 85:770–781Crossref, Medline, Google Scholar 104 Fava M, Davidson KG: Definition and epidemiology of treatment-resistant depression. [neuro.psychiatryonline.org]

The pathophysiology includes a deficiency in astrocyte maturation leading to an increased susceptibility of cells to stress in white matter. There is no specific treatment available except for the “prevention of cellular stress”. [em-consulte.com]

There is no specific treatment available except for the “prevention of cellular stress”. Corticosteroids have sometimes been beneficial in the acute phases. [em-consulte.com]

In both childhood and adult ALL, allopurinol and hydration precede induction chemotherapy to prevent hyperuricemia caused by tumor lysis. [medical-dictionary.thefreedictionary.com]

Early diagnosis and treatment can prevent disease progression, alleviate symptoms, and improve prognosis (73). Metachromatic Leukodystrophy Clinical vignette 4. [neuro.psychiatryonline.org]

We estimate that up to 73 preventable breast cancer deaths occur each year due to the current inequity of access. It may be time to consider alternative funding and implementation models to ensure consistent access across the country. [searchworks.stanford.edu]

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol. 2003;53:354–365. [PMC free article] [PubMed] [Google Scholar] Osaka H, Kawanishi C, Inoue K, et al. [ncbi.nlm.nih.gov]