Current bio markers for Spinocerebellar Ataxias

[wobblybee]

scasource.net/2019/08/09/sn...

[PatsyIpswich]

that's really informative Bee.. I have listened to that expression many times, in context, and not thought about what it actually meant. Thank you x

[benning]

Thanx

[john61]

Hi I am a bit confused by this my diagnosis is sca and a problem with spg9 [I think without digging out the letter]

[wobblybee in reply to john61]

🤔 John, there doesn’t seem a lot of information relating specifically to SPG9 other than it belongs to the group of Hereditary Plastic Paraplegias. I found this, but your own Neurologist is probably your best source of information. It seems that it very much depends on which variant of SPG9 is diagnosed.

J Hum Genet. 2018 Sep;63(9):1009-1013. doi: 10.1038/s10038-018-0477-0. Epub 2018 Jun 18.

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.

Koh K1, Ishiura H2, Beppu M3, Shimazaki H4, Ichinose Y1, Mitsui J2, Kuwabara S5, Tsuji S2,6, Takiyama Y7; Japan Spastic Paraplegia Research Consortium.

Author information

1

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.

2

Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.

3

Department of Molecular Diagnosis, Chiba University Graduate School of Medicine, Chiba, Japan.

4

Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan.

5

Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.

6

International University of Health and Welfare, Chiba, Japan.

7

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan. [e-mail].

Abstract

Hereditary spastic paraplegias (HSPs) are characterized by various inherited disorders in which weakness and spasticity of the lower extremities are the predominant symptoms. Recently, HSP caused by ALDH18A1 mutations has been reported as SPG9 with autosomal dominant (SPG9A) and autosomal recessive (SPG9B) transmission. In this study, we obtained clinical and genetic findings in two Japanese families with SPG9B. One family had a novel compound heterozygous mutation (c.1321 C > T/c.1994G > A) in the ALDH18A1 gene. The other family had a homozygous mutation (c.383 G > A/c.383 G > A) in the ALDH18A1 gene. To date, only two SPG9B families with ALDH18A1 mutations have been reported. This is the first report of SPG9 in non-Caucasians. Furthermore, we found cerebellar ataxia in one family, although cerebellar ataxia has not been reported in SPG9B so far. SPG9B might involve a complicated HSP including cerebellar ataxia and cognitive impairment. This study expands the clinical and genetic spectrum of ALDH18A1-related disorders.