A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant

2021 ◽  
Author(s):  
Moriei Shibuya ◽  
Saki Uneoka ◽  
Akira Onuma ◽  
Kaori Kodama ◽  
Wakaba Endo ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Sandhoff Disease ◽  
Disease Phenotype ◽  
Juvenile Onset ◽  
Novel Variant

scholarly journals Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype

2012 ◽  
Vol 153 (1) ◽  
pp. 111-119 ◽  
Author(s):  
Kenichiro Yamada ◽  
Yuhei Takado ◽  
Yusuke S. Kato ◽  
Yasukazu Yamada ◽  
Hideaki Ishiguro ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Sandhoff Disease ◽  
Β Subunit ◽  
Disease Phenotype ◽  
Dimer Formation ◽  
Adult Form

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering

2021 ◽  
Author(s):  
Jorge Alonso-Pérez ◽  
Ana Casasús ◽  
Álvaro Gimenez-Muñoz ◽  
Jennifer Duff ◽  
Ricard Rojas-Garcia ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Late Onset ◽  
Sandhoff Disease ◽  
Lower Motor Neuron ◽  
Lower Motor Neuron Disease

Distal-type cervical spondylotic amyotrophy: incidence and outcome after central corpectomy

2009 ◽  
Vol 10 (4) ◽  
pp. 374-379 ◽  
Author(s):  
Nooti Venkata Srinivasa Rao ◽  
Vedantam Rajshekhar
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Cord Compression ◽  
Lower Limbs ◽  
Upper Limbs ◽  
Rare Form ◽  
Japanese Orthopedic Association ◽  
Cervical Spondylotic Amyotrophy ◽  
Male Patients

Object Distal-type cervical spondylotic amyotrophy (CSA) is a rare form of cervical spondylotic myelopathy (CSM). The authors documented the incidence, clinical presentation, radiological features, and outcome following central corpectomy (CC) in patients with this entity. Methods The authors performed a retrospective institutional database search of patients who underwent decompressive surgery for CSM between 1992 and 2006 to identify patients with distal-type CSA. Distal-type CSA was defined as weakness and wasting of hands and forearms without gait impairment (Nurick Grades 0 and 1) nor any sensory symptoms or signs in the lower limbs. Results The authors identified 7 male patients (1.1%) with distal-type CSA from among 653 patients who underwent either cervical laminectomy (135 patients) or CC (518 patients). There were sensory symptoms or signs in the upper limbs in all but 1 of the patients. Increased signal intensity in the cord was demonstrated on T2-weighted MR images in all patients. The compression was mainly at the C-6 vertebral level. At a mean follow-up of 46.5 months (range 12–98 months), 6 patients had improved by a mean patient perceived outcome score of 66.7% (range 20–100%). Patients' modified Japanese Orthopedic Association scores improved from a preoperative mean (± SD) of 16.1 ± 0.7, to a follow-up mean of 17.4 ± 0.5 (p = 0.004, paired t-test). One patient whose condition worsened 7 months after CC received a diagnosis of a coexistent motor neuron disease. Conclusions Distal-type CSA is a rare form of CSM that should be differentiated from motor neuron disease on the basis of subtle sensory symptoms or signs in the upper limbs, and the presence of significant cord compression on the MR imaging. Patient outcome after central corpectomy is good and long lasting.

Downbeat nystagmus and lower motor neuron disease: 14 years follow-up

2018 ◽  
Vol 265 (3) ◽  
pp. 714-716
Author(s):  
E. Anagnostou ◽  
G. Papadimas ◽  
M. Rentzos ◽  
T. Zambelis
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Lower Motor Neuron ◽  
Downbeat Nystagmus ◽  
Lower Motor Neuron Disease

P4-121: Speech disorders in FTD/motor neuron disease-the follow up study

2006 ◽  
Vol 2 ◽  
pp. S551-S551
Author(s):  
Katarzyna A. Gustaw ◽  
Jolanta Panasiuk
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Speech Disorders ◽  
Follow Up Study

13. Australian motor neuron disease registry 5 year follow-up

2010 ◽  
Vol 17 (12) ◽  
pp. 1613-1614
Author(s):  
Paul S. Talman ◽  
Matthew Kiernan ◽  
Dominic Rowe ◽  
Rob Henderson ◽  
Rob Edis ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Disease Registry

Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta-van laere syndrome or madras-type motor neuron disease?

1987 ◽  
Vol 234 (6) ◽  
pp. 440-442 ◽  
Author(s):  
B. A. Summers ◽  
M. Swash ◽  
M. S. Schwartz ◽  
D. A. Ingram
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Muscular Atrophy ◽  
Juvenile Onset ◽  
Type Motor
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