JOURNAL ARTICLE

SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy

Sabine Rudnik-Schöneborn, Larissa Arning, Jörg T Epplen, Klaus Zerres
Neuromuscular Disorders: NMD 2012, 22 (3): 258-62
22088787
Autosomal dominant proximal spinal muscular atrophy (ADSMA) is a rare disorder with unknown gene defects in the majority of families. Here we describe a family where the diagnosis of juvenile and adult onset ADSMA was made in three individuals. Because of retained tendon reflexes an atypical course of juvenile amyotrophic lateral sclerosis (ALS4) was considered. SETX gene sequencing revealed the previously reported heterozygous missense mutation c.1166T<C, L389S in the patients. Moreover the index patient and his sister had an earlier age at onset (10 and 15 years) and a more pronounced weakness as compared to their father with an age at onset of 35 years. Both sibs additionally carried a second SETX missense mutation of unknown function V891A in trans. Altogether these results expand the phenotype associated with SETX mutations supporting the notion that patients with ADSMA should be investigated for SETX mutations.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
22088787
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.