PROGRESSIVE NEUROLOGICAL DISORDER AND MYOTONIA CONGENITA ASSOCIATED WITH PARAMYOTONIA

Brain ◽  
1963 ◽  
Vol 86 (4) ◽  
pp. 811-826 ◽  
Author(s):  
ARTHUR J. HUDSON
Keyword(s):  
Neurological Disorder ◽  
Myotonia Congenita

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

�ber eine erfolgreiche Behandlung der Myotonia congenita (Thomsen) mit Kationenaustauschern

1953 ◽  
Vol 31 (35-36) ◽  
pp. 868-869 ◽  
Author(s):  
Rolf Gr�ttner ◽  
Hans Georg Mertens
Keyword(s):  
Myotonia Congenita

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita

2021 ◽  
Author(s):  
Lucas Santos Souza ◽  
Priscila Calyjur ◽  
Antonio Fernando Ribeiro ◽  
Juliana Gurgel-Giannetti ◽  
Rita Cassia Mingroni Pavanello ◽  
...  
Keyword(s):  
Consanguineous Family ◽  
Myotonia Congenita ◽  
Clcn1 Gene

Nanopharmaceutical-based regenerative medicine: Promising therapeutic strategy for spinal cord injury

2021 ◽  
Author(s):  
Chen Zhao ◽  
Zheng Xing ◽  
Chunchen Zhang ◽  
Yubo Fan ◽  
Haifeng Liu
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Injury ◽  
Regenerative Medicine ◽  
Neurological Disorder ◽  
Therapeutic Strategy ◽  
Severe Injury ◽  
Cord Injury

Spinal cord injury (SCI) is a neurological disorder that can lead to loss of perceptive and athletic function due to the severe injury of nerve. Nowadays, evidences detailing the precise...

scholarly journals Spermatorrhea in a Chinese patient with temporal lobe epilepsy: a case report

2021 ◽  
Vol 49 (1) ◽  
pp. 030006052098281
Author(s):  
Liang Zhang ◽  
Hao Yu ◽  
Dan Li ◽  
Hui Qian ◽  
Yuchao Chen
Keyword(s):  
Erectile Dysfunction ◽  
Case Report ◽  
Sexual Dysfunction ◽  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Neurological Disorder ◽  
Premature Ejaculation ◽  
Chinese Patient ◽  
Left Temporal Lobe ◽  
Rare Manifestation

Epilepsy is a chronic neurological disorder that is characterized by episodes of seizure. Sexual dysfunction has been reported in patients with seizure, which mostly manifests as erectile dysfunction and premature ejaculation in men. In this study, we report the case of a 65-year-old Chinese man with frequent spermatorrhea. Electroencephalography suggested local epilepsy in the left temporal lobe. After treatment with anti-epilepsy drugs, the symptoms disappeared and did not recur. To the best of our knowledge, this is the first reported case of epilepsy-induced spermatorrhea. The symptoms of spermatorrhea are probably a rare manifestation of seizure. When repetitive stereotyped symptoms occur, seizure should be considered, and tentative anti-epileptic treatment may be a good option.

scholarly journals Gene Editing and Modulation: the Holy Grail for the Genetic Epilepsies?

2021 ◽  
Author(s):  
Jenna C. Carpenter ◽  
Gabriele Lignani
Keyword(s):  
Precision Medicine ◽  
Neurological Disorder ◽  
Gene Editing ◽  
Therapeutic Strategy ◽  
Therapeutic Potential ◽  
Single Gene ◽  
Drug Resistant ◽  
Holy Grail ◽  
Effective Therapeutic Strategy ◽  
Genetic Epilepsies

AbstractEpilepsy is a complex neurological disorder for which there are a large number of monogenic subtypes. Monogenic epilepsies are often severe and disabling, featuring drug-resistant seizures and significant developmental comorbidities. These disorders are potentially amenable to a precision medicine approach, of which genome editing using CRISPR/Cas represents the holy grail. Here we consider mutations in some of the most ‘common’ rare epilepsy genes and discuss the different CRISPR/Cas approaches that could be taken to cure these disorders. We consider scenarios where CRISPR-mediated gene modulation could serve as an effective therapeutic strategy and discuss whether a single gene corrective approach could hold therapeutic potential in the context of homeostatic compensation in the developing, highly dynamic brain. Despite an incomplete understanding of the mechanisms of the genetic epilepsies and current limitations of gene editing tools, CRISPR-mediated approaches have game-changing potential in the treatment of genetic epilepsy over the next decade.

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