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. 2020 Aug 3;21(15):5566. doi: 10.3390/ijms21155566

Table 1.

Summary of the clinical data of the patients.

Patients Age at Onset (Years) Duration of the Disease at the Study Initial Symptoms Clinical Signs ALS FRS-R MMSE Genetic Alteration Family History Therapy Other Disease
mALS 1 63 1 year proximal bilateral lower limb weakness LMN, UMN 32/48 28/30 SOD1 pVal14 Met
ANG Met24Ile
negative Riluzole, Perindopril, Aspirin, Piracetam, Vinpocetine, Nebivolol atherosclerosis, hypertension
mALS 2 75 12 years bilateral lower limb weakness LMN, UMN, B 19/48 29/30 SOD1 pAsp90Ala negative Riluzole cervical and lumbar spondylarthrosis, hyperlipidemia
mfALS 3 29 2 years gait disturbance LMN, UMN 36/48 30/30 SOD1 pLeu144Phe grandmother (fraternal) Riluzole -
mfALS 4 49 3 years distal weakness of lower limbs LMN, UMN, B, PB 25/48 28/30 SOD1 pLeu144Phe grandmother (maternal) Riluzole, Citalopram depression, lumbar discs’ herniation
mALS 5 67 6 months four limbs weakness B, PB, UMN, LMN 39/48 30/30 SOD1 pLys91Arg fs Ter8 negative Riluzole, Atorvastatin, Valsartan breast cancer (irradiated 8 years ago), hypercholesterolemia, cervical and lumbar discs’ protrusion
mALS 6 68 6 months bilateral peroneal palsy, dysarthria LMN, B, UMN 44/48 30/30 C9ORF72 repeat expansion negative Alprazolam, Perindopril, Duloxetine hyperparathyroidism (cured), generalized lipomatosis, osteoporosis, hypertension, depression
mALS 7 55 1 year dysarthria, dysphagia B, PB, LMN, UMN 37/48 27/30 C9ORF72 repeat expansion negative Riluzole, L-thyroxin Hashimoto’s thyroiditis
mfALS 8 56 8 months dysarthria, dysphagia B, PB, LMN, UMN 36/48 30/30 C9ORF72 repeat expansion mother with suspected ALS (not documented) Riluzole, L-thyroxin hypothyroidism
mALS 9 54 6 months dyspnea B, PB, LMN, UMN 40/48 30/30 SQSTM1 pPro392Leu negative Valsartan-HCT hypertension
mALS 10 61 6 months UMN, LMN lesions in the lower limbs LMN, UMN, B 42/48 30/30 CCNF pLeu106Val negative Valsartan, Riluzole hypertension, cervical and lumbar discs’ protrusion
mALS 11 65 6 months four limbs weakness LMN, UMN 43/48 29/30 UBQLN2 pMet392Val negative Riluzole hypertension depression
mALS 12 37 6 months four limbs weakness, dysarthria, cognitive deficit UMN, LMN, B, PB 39/48 23/30 NEK1 pSer261His TBK1 pLys631 deletion negative Riluzole, Perindopril, Paroxetine hypertension depression, frontotemporal dementia
sALS1 71 1 year weakness of the right arm and leg (peroneal) UMN, LMN 41/48 28/30 - negative Piracetam, Diclofenac, Aspirin, Perindopril, Isosorbide-mononitrate, Bisoprolol hypertension, hypercholesterolemia, atherosclerosis, post zoster neuralgia
sALS2 74 9 months dysarthria, dysphagia B, UMN, LMN 39/48 26/26 - negative Amlodipine, Perindopril, Metoprolol, Atorvastatin, Riluzole hypertension, hypercholesterolemia

mALS: ALS with identified mutation; mfALS: familial ALS with identified mutation; sALS: sporadic ALS; LMN: lower motor neuron; UMN: upper motor neuron; B: bulbar; PB: pseudobulbar; ALSFRS-R: ALS functional rating scale revised; MMSE: Mini-Mental State Examination.