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Inherited neurological disorders : diagnosis and case study /
This 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 disorder...
| Clasificación: | Libro Electrónico |
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| Otros Autores: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Singapore :
Springer,
2017.
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| Temas: | |
| Acceso en línea: | Texto completo |
Tabla de Contenidos:
- 1: 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.
- Clinical 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).
- A 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.
- 1.9 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).
- A 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.