PNPLA6 Mutation - Gordon-Holmes / Boucher-Neuhauser Syndromes -

[Roman_mom]

Hello I am new here, I am looking for people with this rare mutation leading to the mentioned syndromes, in order to share experiences and information and join forces to foster research about it.

They are characterized by spastic paraplegia, ataxia, hypogonadism, short stature, retinal distrophy (among others) - these symptoms don't appear all together, one may have two or more of them, and they may appear at different ages.

As it is a very rare condition it is hardly recognized unless a specific gene research is made.

Thank you for any kind support or information

[wobblybee]

🙂 If you didn’t already know..there is a Boucher Neuhauser Group on Facebook.

Someone on one of the ataxia support groups is diagnosed with Gordon Holmes Syndrome.

[Roman_mom in reply to wobblybee]

Thank you! Will get in touch with them!