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12 papers 0 to 25 followers rare but worth studying
Andreea Nissenkorn, Bruria Ben-Zeev
Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encoding for the ATM protein. AT systemic manifestations include cutaneous telangiectasias, radiosensitivity, immune deficiency with recurrent sinopulmonary infections, and a tendency to develop lymphoid malignancies. These complications are explained by the major role played by ATM in DNA repair. AT is also the second most common childhood onset neurodegenerative disorder of the cerebellum, presenting with progressive ataxia and oculomotor apraxia and often accompanied by extrapyramidal movement disorders...
2015: Handbook of Clinical Neurology
Daniele Cazzato, Eleonora Dalla Bella, Patrizia Dacci, Caterina Mariotti, Giuseppe Lauria
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a newly described condition with onset in adulthood, characterized by progressive balance impairment and sensory disturbances in the lower limbs, which can severely affect patients' quality of life. Its pathogenesis remains obscure and the diagnosis challenging. We described four patients complaining of slowly progressive gait unbalance and sensory disturbances at the feet followed, after a period ranging 2-6 years, by cerebellar dysfunction...
February 2016: Journal of Neurology
John A Mcgrath
Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in ECM1, encoding extracellular matrix protein 1, a glycoprotein expressed in many organs and which has important protein-protein interactions in tissue homeostasis. Although the disease usually presents clinically with warty infiltration of the skin and mucous membranes and a hoarse voice, neuropsychological and neuropsychiatric abnormalities are often prominent features. There may be bean- or comma-shaped intracranial calcifications, often selectively affecting the amygdala...
2015: Handbook of Clinical Neurology
Yalan Zhang, Leonard K Kaczmarek
The voltage-dependent potassium channel subunit Kv3.3 is expressed at high levels in cerebellar Purkinje cells, in auditory brainstem nuclei and in many other neurons capable of firing at high rates. In the cerebellum, it helps to shape the very characteristic complex spike of Purkinje cells. Kv3.3 differs from other closely related channels in that human mutations in the gene encoding Kv3.3 (KCNC3) result in a unique neurodegenerative disease termed spinocerebellar ataxia type 13 (SCA13). This primarily affects the cerebellum, but also results in extracerebellar symptoms...
August 15, 2016: Journal of Physiology
Elia Sechi, Alberto Addis, Giulia Fadda, Luigi Minafra, Valentina Bravatà, GianPietro Sechi
No abstract text is available yet for this article.
October 6, 2015: Neurology
M C Bates, A Almehmi
No abstract text is available yet for this article.
December 2005: Heart: Official Journal of the British Cardiac Society
T Haitjema, C J Westermann, T T Overtoom, R Timmer, F Disch, H Mauser, J W Lammers
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a hereditary disorder leading to easily bleeding telangiectases on skin and mucosal surfaces, and it is associated with the presence of arteriovenous malformations (AVMs) in multiple organ systems. These AVMs may cause serious complications when they are located in the lungs, liver, or brain. The prevalence of AVMs in patients with HHT might be higher than previously estimated. Nowadays, treatment is often possible. In some families, mutations have been shown in the gene encoding for a transforming growth factor receptor, endoglin...
April 8, 1996: Archives of Internal Medicine
Luis M Pérez-Belmonte, Elisabeth Gomez-Moyano
A 58-year-old woman presented with intermittent passage of bright red blood from the rectum, progressive fatigue, and dyspnea. Examination revealed telangiectasias on the labial mucosa and nail folds. Her mother was reported to have frequent epistaxis and similar skin lesions.
September 24, 2015: New England Journal of Medicine
(no author information available yet)
No abstract text is available yet for this article.
June 6, 2015: Lancet
Letícia Sauma, Karine C S Teixeira, Maria Augusta Montenegro
No abstract text is available yet for this article.
July 2015: Arquivos de Neuro-psiquiatria
M Mancuso, D Orsucci, G Siciliano, U Bonuccelli
Among the hereditary cerebellar ataxias (CAs), there are at least 36 different forms of autosomal dominant cerebellar ataxia (ADCAs), 20 autosomal recessive cerebellar ataxias (ARCAs), two X-linked ataxias, and several forms of ataxia associated with mitochondrial defects. Despite the steady increase in the number of newly discovered CA genes, patients, especially those with putative ARCAs, cannot yet be genotyped. Moreover, in daily clinical practice, ataxia may present as an isolated cerebellar syndrome or, more often, it is associated with a broad spectrum of neurological manifestations including pyramidal, extrapyramidal, sensory, and cognitive dysfunction...
September 2014: Journal of Neurology
Chaitanya Bonda, Pankaj Sharma, Kathrin LaFaver
No abstract text is available yet for this article.
July 14, 2015: Neurology
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