Table 1.
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.