A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

Hosaka, Takashi; Ishii, Kazuhiro; Miura, Takeshi; Mezaki, Naomi; Kasuga, Kensaku; Ikeuchi, Takeshi; Tamaoka, Akira

doi:10.1186/s12883-017-0959-2

Table 1 Familial cases presenting with distinct clinical phenotypes

From: A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

Case	Age onset; number of patients	First symptom	Phenotype	Brain atrophy	Ethnic origin	GRN mutation
Rovelet-Lecrux et al., 2008 [15]	67,77; 2 patients	Language dysfunction	PPA	left > right	French	g.95_4390del
Rovelet-Lecrux et al., 2008 [15]	67,77; 2 patients	Resting tremor	PD	left > right	French	g.95_4390del
Spina et al., 2007 [13]	45,73; 2 patients	Involuntary arm movement	CBS	right > left	N/A	g.26C >A
Spina et al., 2007 [13]	45,73; 2 patients	Cognitive decline	AD	right > left	N/A	g.26C >A
Beck et al., 2008 [4]	54–67; 10 patients	Language dysfunction	PPA	left > right (n = 2)	United Kingdom	g.90_91insCTGC
Beck et al., 2008 [4]	54–67; 10 patients	Limb apraxia	CBS	right > left (n = 1)	United Kingdom	g.90_91insCTGC
Skoglund et al., 2009 [12]	46–59; 10 patients	Language dysfunction	PPA	N/A	Swedish	g.102delC
Skoglund et al., 2009 [12]	46–59; 10 patients	Limb apraxia	CBS	N/A	Swedish	g.102delC
Rademakers et al., 2007 [16]	62,66; 2 patients	N/A	FTLD, CBS	N/A	American	g.3240C > T
Masellis et al., 2006 [17]	57,62; 2 patients	Behavioral changes	FTLD	right > left	Canadian family of Chinese origin	g.1637G > A
Masellis et al., 2006 [17]	57,62; 2 patients	Axial and extremity rigidity	CBS	right > left	Canadian family of Chinese origin	g.1637G > A
Leverenz et al., 2007 [18]	35–69; 9 patients	Language dysfunction	FTLD	left > right (n = 3) right > left (n = 1)	American	g.1871A > G
		Anxiety, apathy	PPA
		Parkinsonism	PD
López de Munain et al., 2008 [19]	53,57; 2 patients	N/A	FTLD, CBS	N/A	Basque Country	g.1872G > A
	51,71; 2 patients	N/A	FTLD, CBS	N/A	Basque Country	g.1873G > A
	65; 2 patients	N/A	FTLD, CBS	N/A	Basque Country	g.1874G > A
	60; 2 patients	N/A	FTLD, CBS	N/A	Basque Country	g.1875G > A
	63–70; 4 patients	N/A	FTLD, CBS	N/A	Basque Country	g.1876G > A
	52; 2 patients	N/A	FTLD, ALS	N/A	Basque Country	g.1877G > A
Benussi et al., 2009 [5]	60–71; 5 patients	Language dysfunction	PPA	right > left	Italian	g.1977_1980delCACT
Benussi et al., 2009 [5]	60–71; 5 patients	Parkinsonism	CBS	right > left	Italian	g.1977_1980delCACT
Kelley et al., 2009 [6]	N/A; 6 patients	N/A	FTLD, PD	symmetrical	American	g.2273_2274insTG
Kelley et al., 2009 [6]	N/A; 6 patients	N/A	FTLD, PD	right > left	American	g.2597delC
Pietroboni et al., 2011 [7]	47–79; 5 patients	Memory impairment, Acalculia	FTLD, AD	right > left (n = 1) symmetrical (n = 1) N/A (n = 3)	Italian	g.63_64insC
Pietroboni et al., 2011 [7]	47–79; 5 patients	Language impairment	FTLD, AD	right > left (n = 1) symmetrical (n = 1) N/A (n = 3)	Italian	g.63_64insC
Rossi et al., 2011 [8]	47–80; 6 patients	Behavioural abnormality	FTLD Dementia	Left > right	Italian	g.1761_1762delCA
		Language dysfunction
		Attention impairment
The present case	75,62; 2 patients	Language dysfunction	PPA	left > right	Japanese	g.1118_1119delCCinsG
The present case	75,62; 2 patients	Limb apraxia	CBS	left > right	Japanese	g.1118_1119delCCinsG

AD Alzheimer’s disease, ALS amyotrophic lateral sclerosis, CBS corticobasal syndrome, FTLD frontotemporal lobar degeneration, GRN progranulin gene, N/A not available, PD Parkinson’s disease, PPA primary progressive aphasia

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