AxD_symptoms

Documents (7) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PMC	3654953	Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant Abstract Background We studied a family inc	28.4 KB	2025-10-02	6	71	2021-01-22
PMC	2722014	A Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis Abstract Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etio	11.2 KB	2020-09-15	4	67	2021-01-22
PMC	5097349	Atypical MRI features in familial adult onset Alexander disease: case report Abstract Background Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinic	17.2 KB	2021-01-22	3	69	2021-01-22
PMC	6967083	A case report of adult-onset Alexander disease clinically presenting as Parkinson’s disease: is the comorbidity associated with genetic susceptibility? Abstract Background Alexander disease is a rare	8.02 KB	2021-01-22	3	26	2021-01-22
PMC	4766795	Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene Abstract Abstract not available. *Authors have contributed equally to this work. Letter to	11.9 KB	2025-10-02	6	72	2021-01-22
PMC	3506840	A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy Abstract We present her	10.3 KB	2021-01-22	3	37	2021-01-22
PMC	5590178	Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model Abstract Background Alexander disease (AxD) is an astrogliopathy that predominantly affects the white matter of	29.4 KB	2021-01-22	3	59	2021-01-22