PNPLA6 Mutation - Gordon-Holmes / Boucher-Neuha... - Ataxia UK

Ataxia UK

4,113 members4,691 posts

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

Roman_mom profile image
2 Replies

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

Written by
Roman_mom profile image
Roman_mom
To view profiles and participate in discussions please or .
Read more about...
2 Replies
wobblybee profile image
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 profile image
Roman_mom in reply towobblybee

Thank you! Will get in touch with them!

Not what you're looking for?

You may also like...

Ataxia Cro

Hi! My name is Bozena, 33.years, I am from Croatia... so I apologize for bad engkish because it's...
boki profile image

The Ataxia.UK Specialist Centre At The John Radcliffe Hospital - my experience

Specialist Ataxia Centre at the John Radcliffe, Oxford Referral I contacted Ataxia UK...
nikkistowe profile image
Volunteer

the problem with ataxia.

This is prompted by Buffergirl and her post about neurologists. Ataxia as a medical condition is...
nigelrheath profile image

Survey for Rare Disease UK-for carers and patients with rare diseases.

Dear all Please see an e-mail Ataxia UK have received from Rare Disease UK below. As I have...
HarryB profile image
Administrator

Travel Insurance nightmare

Trying to do the right thing, I telephoned Lloyds TSB today to notify the Travel Insurance section...
Wyndham profile image

Moderation team

See all
HarryB profile image
HarryBAdministrator
VE93 profile image
VE93Administrator
WendyBom profile image
WendyBomModerator

Content on HealthUnlocked does not replace the relationship between you and doctors or other healthcare professionals nor the advice you receive from them.

Never delay seeking advice or dialling emergency services because of something that you have read on HealthUnlocked.