Teaching NeuroImages: Hypomyelinating leukodystrophy with generalized dystonia
نویسندگان
چکیده
منابع مشابه
Teaching video neuroimages: speech-induced oromandibular dystonia relieved by singing.
We report a rare task-specific dystonia in a 26-yearold man with a 4-year progressive speech disorder characterized by oromandibular spasms. Family and medical history were unremarkable; he was never exposed to neuroleptic drugs or toxic agents. Neurologic examination revealed only speech-induced oromandibular dystonic movements, characterized by forced jaw opening, interfering with speech (vid...
متن کاملDefective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation
Hypomyelinating leukodystrophy (HLD) is a genetic demyelinating and dismyelinating disease in the oligodendrocyte, the central nervous system (CNS) myelin-forming glia [1]. Pelizaeus-Merzbacher disease is a prototypic HLD and is now called HLD1. HLD1 is caused by mutations of the gene encoding proteolipid protein 1 (PLP1). HLD4 (OMIM No. 612233) is associated with a missense mutation of mitocho...
متن کاملTeaching NeuroImages: Gasperini syndrome.
Gasperini syndrome is a rare crossed brainstem syndrome characterized by ipsilateral impairment of the VI, VII, and occasionally VIII cranial nerves and contralateral sensory loss. The syndrome, initially described by Ubaldo Gasperini in 1912, results from a lesion of the caudal pons tegmentum (figure e-1, links.lww.com/WNL/A47). The most frequent cause is the occlusion of the long circumferent...
متن کاملTeaching NeuroImages: chordoma.
A 30-year-old man presented with recurrent headaches. CT head revealed a clival chordoma (figure 1A). Chordomas originate from the embryonic remnants of the notochord and account for 2%–4% of all malignant bone tumors. They have a predilection for the axial skeleton, with 35% affecting the spheno-occipital region. The incidence peaks at ages 20–40 years. Male patients are affected twice Figure ...
متن کاملTeaching neuroimages: Gradenigo syndrome.
since 1951, it is now a weekly with 48 issues per year.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology
سال: 2020
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000008827