Book contents
- 55 Cases in Neurology
- 55 Cases in Neurology
- Copyright page
- Contents
- Preface
- Acknowledgements
- Section 1 Visual Disturbance
- Section 2 Headache and Pain
- Section 3 Weakness
- Section 4 Behavioural and Language Changes
- Section 5 Confusion
- Section 6 Movement Disturbances
- Case 38 Involuntary Arm Movement
- Case 39 Salt Control
- Case 40 A Young Man with More Than Dizziness
- Case 41 Late Familial Falling
- Case 42 Non-familial Falling
- Case 43 Shaking Leg
- Case 44 A Viral Opportunity
- Case 45 More Searching for Causes of Progressive Unsteadiness
- Section 7 Acute Onset of Neurological Symptoms
- Index
- Plate Section (PDF Only)
- References
Case 45 - More Searching for Causes of Progressive Unsteadiness
from Section 6 - Movement Disturbances
Published online by Cambridge University Press: 27 July 2023
Book contents
- 55 Cases in Neurology
- 55 Cases in Neurology
- Copyright page
- Contents
- Preface
- Acknowledgements
- Section 1 Visual Disturbance
- Section 2 Headache and Pain
- Section 3 Weakness
- Section 4 Behavioural and Language Changes
- Section 5 Confusion
- Section 6 Movement Disturbances
- Case 38 Involuntary Arm Movement
- Case 39 Salt Control
- Case 40 A Young Man with More Than Dizziness
- Case 41 Late Familial Falling
- Case 42 Non-familial Falling
- Case 43 Shaking Leg
- Case 44 A Viral Opportunity
- Case 45 More Searching for Causes of Progressive Unsteadiness
- Section 7 Acute Onset of Neurological Symptoms
- Index
- Plate Section (PDF Only)
- References
Summary
A 40-year-old man was referred for neurological assessment. He had had a five-year history of progressive slurred speech, difficulty initiating swallowing of both liquids and solids, choking episodes and poor balance.
- Type
- Chapter
- Information
- 55 Cases in NeurologyCase Histories and Patient Perspectives, pp. 307 - 314Publisher: Cambridge University PressPrint publication year: 2023
References
de Silva, RN, Vallortigara, J, Greenfield, J et al. Diagnosis and management of progressive ataxia in adults. Pract Neurol. 2019;19(3):196–207.CrossRefGoogle ScholarPubMed
Németh, AH, Kwasniewska, AC, Lise, S et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain. 2013;136(10):3106–18.CrossRefGoogle ScholarPubMed
de Silva, R, Greenfield, J, Cook, A et al. Guidelines on the diagnosis and management of the progressive ataxias. Orphanet J Rare Dis. 2019;14:51.CrossRefGoogle ScholarPubMed
Vermeer, S, Hoischen, A, Meijer, RPP et al. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet. 2010;87(6):813–9.CrossRefGoogle ScholarPubMed
Beaudin, M, Matilla-Dueñas, A, Soong, B-W et al. The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force. Cerebellum 2019;18(6):1098–125.CrossRefGoogle Scholar