Top

Published in:

01-03-2022 | Spastic Paraplegia | Quiz Cases

Tongue and cerebellar atrophy

Authors: Rui Fan, Zhuoting Liu, Fei Xiao

Published in: Neurological Sciences | Issue 3/2022

Excerpt

A -year-old woman complained of limb weakness and walking instability for 12 years. She presented with difficulty in running compared to her peers since she was young. At the age of 10 years, she presented with stiffness in both lower limbs and walking instability, especially when climbing stairs. At the same time, she exhibited muscle atrophy in the left hand and hand tremors. At the age of 16 years, she had trouble writing with her right hand. One year later, she presented with slurred speech, which gradually worsened. However, she did not show any apparent dysphagia. She was from a non-consanguineous family, and had one brother and two sisters. One of her older sisters also exhibited similar symptoms. …

Izumi Y, Miyamoto R, Morino H, Yoshizawa A, Nishinaka K, Udaka F, Kameyama M, Maruyama H, Kawakami H (2013) Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology 80:600–601. https://doi.org/10.1212/wnl.0b013e3182815529CrossRefPubMed

Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P (2016) SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain : a journal of neurology 139:1378–1393. https://doi.org/10.1093/brain/aww079CrossRef

Kume K, Morino H, Komure O, Matsuda Y, Ohsawa R, Kurashige T, Kanaya Y, Tada Y, Kawakami H (2019) C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8. J Neurol Sci 402:118–120. https://doi.org/10.1016/j.jns.2019.05.001CrossRefPubMed

Title: Tongue and cerebellar atrophy
Authors: Rui Fan
Zhuoting Liu
Fei Xiao
Publication date: 01-03-2022
Publisher: Springer International Publishing
Keywords: Spastic Paraplegia
Magnetic Resonance Imaging
Spinal Muscular Atrophy
Magnetic Resonance Imaging
Spinocerebellar Ataxia
Published in: Neurological Sciences / Issue 3/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05804-z

At a glance: The STEP trials

Springer Medicine

Tongue and cerebellar atrophy

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 3/2022

Short- and long-term motor outcome of STN-DBS in Parkinson’s Disease: focus on sex differences

Patterns of prophylactic anticonvulsant use in spontaneous intracerebral and subarachnoid hemorrhage: results of a practitioner survey

A novel homozygous mutation in TBK1 gene causing ALS-FTD

Jean-Martin Charcot (1825–1893) and the “Alice in Wonderland syndrome”

Correction to: Psychological well‑being in people with multiple sclerosis: a descriptive review of the effects obtained with mindfulness interventions

X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China