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

74. Novel mutations in juvenile Sandhoff disease presenting as motor neuron disease

2008 ◽  
Vol 93 (2) ◽  
pp. 33
Author(s):  
Tyler Mark Pierson ◽  
Bai Jin Zeng ◽  
Paola Torres ◽  
Gregory Pastores ◽  
Richard Finkel ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Sandhoff Disease ◽  
Novel Mutations

Molecular basis of an adult form of β-hexosaminidase B deficiency with motor neuron disease

1991 ◽  
Vol 181 (1) ◽  
pp. 108-115 ◽  
Author(s):  
Probal Banerjee ◽  
Luisa Siciliano ◽  
Douglas Oliveri ◽  
Norah R. McCabe ◽  
Michael J. Boyers ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Molecular Basis ◽  
Adult Form

scholarly journals First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Michele Cavalli ◽  
Rosanna Cardani ◽  
Laura Valentina Renna ◽  
Mauro Toffetti ◽  
Luisa Villa ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Muscle Biopsy ◽  
Late Onset ◽  
Muscular Atrophy ◽  
Clinical Signs ◽  
The United States ◽  
Foot Drop ◽  
Distal Myopathy

Mutations in the MATR3 gene are associated to distal myopathy with vocal cord and pharyngeal weakness (VCPDM), as well as familiar and sporadic motor neuron disease. To date, 12 VCPDM families from the United States, Germany, Japan, Bulgary, and France have been described in the literature. Here we report an Italian family with a propositus of a 40-year-old woman presenting progressive bilateral foot drop, rhinolalia, and distal muscular atrophy, without clinical signs of motor neuron affection. Her father, deceased some years before, presented a similar distal myopathy phenotype, while her 20-year-old son is asymptomatic. Myopathic changes with vacuolization were observed in muscle biopsy from the propositus. These results, together with the peculiar clinical picture, lead to MATR3 gene sequencing, which revealed a heterozygous p.S85C mutation in the propositus. The same mutation was found in her son. Over a 5-year follow-up, progression is mild in the propositus, while her son remains asymptomatic. Clinical, radiological, and pathological data of our propositus are presented and compared to previously reported cases of VCPDM. VCPDM turns out to be a quite homogenous phenotype of late-onset myopathy associated to p.S85C mutation in MATR3 gene. MATR3-related pathology, encompassing myopathy and motor neuron disease, represents an illustrative example of multisystem proteinopathy (MSP), such as other diseases associated to mutations in VCP, HNRNPA2B1, HNRNPA1, and SQSTM1 genes. The present report contributes to a further characterization of this still poorly understood pathology and points out the diagnostic utility of muscle biopsy in challenging cases.

Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

2006 ◽  
Vol 23 (1) ◽  
pp. 97-108 ◽  
Author(s):  
Ying-Zhang Chen ◽  
Sayed H. Hashemi ◽  
Susan K. Anderson ◽  
Yongzhao Huang ◽  
Maria-Ceu Moreira ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Recessive Mutations ◽  
Unique Protein
Sign in / Sign up

Export Citation Format

Share Document