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020			_a9789811041969 _q(electronic bk.)
020			_a9811041962 _q(electronic bk.)
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020			_z9811041954
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050		4	_aRC346.4 _b2017 EB
245	0	0	_aInherited neurological disorders : _bdiagnosis and case study _cZhi-Ying Wu, editor.
264		1	_aSingapore _bSpringer International Publishing _c2017
300			_a1 recurso en línea (v, 147 páginas) _bilustraciones (algunas a color)
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_atext file _bPDF
505	0		_a1: Cerebellar Ataxia; 1.1 Spinocerebellar Ataxia Type 1 (SCA1); A 36-Year-Old Male Presented with Gait Disturbance and Urine Incontinence; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.2 Spinocerebellar Ataxia Type 2 (SCA2); A 33-Year-Old Man Presented with Uncontrolled Movement of Head and Gait Disturbance; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.3 Spinocerebellar Ataxia Type 3 (SCA3); A 57-Year-Old Woman Presented with Ataxia and Peripheral Neuropathy.
505	8		_a1.9 Gerstmann-Straussler-Scheinker (GSS) A 59-Year-Old Woman with Progressive Gait Unsteadiness; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.10 Ataxia with Oculomotor Apraxia Type 2 (AOA2); A 25-Year-Old Woman with Gait Unsteadiness and Tremble; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; References; 2: Epileptic Attack-Related Disorders; 2.1 Mitochondrial EncephaloƯmyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS).
505	8		_aA 20-Year-Old Girl with Transient Loss of Consciousness and Seizures Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 2.2 Myoclonus Epilepsy Associated with Ragged Red Fibers (MERRF); A 52-Year-Old Female Presented with Paroxysmal Right Upper Limb Tics; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 2.3 Cherry-Red Spot Myoclonus; A 13-Year-Old Boy Underwent 6 Years of Hypopsia and 2 Years of Limb Tic; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion.
505	8		_aA 61-Year-Old Woman Presented with Action Tremor and Ataxia Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.7 Spinocerebellar Ataxia Type 17 (SCA17); A 45-Year-Old Female Presented with Gait Disturbance and Mood Changes; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.8 Dentatorubral-Pallidoluysian Atrophy (DRPLA); A 51-Year-Old Male Presented with an Unsteady Gait and Slurred Speech; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion.
505	8		_aClinical Presentations Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.4 Spinocerebellar Ataxia Type 6 (SCA6); A 49-Year-Old Female Presented with Gait Disturbance and Dysarthria; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.5 Spinocerebellar Ataxia Type 7 (SCA7); A 22-Year-Old Girl Presented with Ataxia and Visual Dysfunction; Clinical Presentations; Primary Diagnosis; Additional Tests or Key Results; Discussion; 1.6 Spinocerebellar Ataxia Type 12 (SCA12).
520	3		_aThis book provides up-to-date information on various inherited neurological disorders, presenting 40 cases of inherited neurological disorders with genetic diagnosis and/or pathological confirming. These disorders include cerebellar ataxia (SCA1, SCA2, SCA3, etc.), epileptic attacks related disorders (MELAS, MERRF, TSC, etc.), motor neuron related disorders (ALS, HSP, CMT, etc.), movement disorders (PD, PKD, DRD, etc.), ion channel diseases (hypokalemic periodic paralysis, normal potassium periodic paralysis), muscle diseases (DMD, FSHD, LSM, etc.), and dementia and psychiatric disorders (HD, CADASIL, CARASIL, etc.). With the format of case study, one type of diseases is discussed on each chapter, basically consisted of 5 sections. Section 1 focuses on the detailed clinical features, physical examination and hematological examination, while Section 2addresses questions regarding diagnosis and differential diagnosis. Additional information such as imaging material and genetic/pathological results are provided in Section 3, followed by the final diagnosis in Section 4. Section 5 presents a systemic review for each specific disease. The book will benefit clinicians especially neurologists, medical students, researchers and healthcare professionals facing difficult cases, particularly those involving fundamental research and diagnostic methods. Zhi-Ying Wu is a chief physician, professor and tutor of Ph. D. at the Department of Neurology and the Director of the Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hanzhou, China. Her research focus is on screening for causative genes, analyzing genotype-phenotype correlations, and understanding molecular pathogenesis of neurological disorders.
650		7	_aSistema nervioso central _xEnfermedades _2embne _0(OCoLC)fst01036107 _0 _9188115
700	1		_aWu, Zhi-Ying.
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-981-10-4196-9 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
988			_aSpringer_Medicine_2017
998			_b02/2018 _dz _e- _zSI
999			_c96345 _d96345 _x1