Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy): First report from India

Neurol India. 2018 Mar-Apr;66(2):538-541. doi: 10.4103/0028-3886.227319.

Authors

Ramesh Chepuru¹, Afshan Jabeen Shaik¹, Swetha Reddy Tandra¹, Padmaja Gaddamanugu¹, Suvarna Alladi², Subhash Kaul¹

Affiliations

¹ Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
² Department of Neurology, National Institute of Mental Health and Neurological Sciences, Bengaluru, Karnataka, India.

PMID: 29547188
DOI: 10.4103/0028-3886.227319

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Adult
Family Health
Humans
India
Lipodystrophy / diagnostic imaging*
Lipodystrophy / genetics*
Magnetic Resonance Imaging
Male
Membrane Proteins / genetics*
Mutation / genetics*
Osteochondrodysplasias / diagnostic imaging*
Osteochondrodysplasias / genetics*
Subacute Sclerosing Panencephalitis / diagnostic imaging*
Subacute Sclerosing Panencephalitis / genetics*

Substances

Adaptor Proteins, Signal Transducing
Membrane Proteins
TYROBP protein, human

Supplementary concepts

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy