Skip to main content

Table 1 Clinical data from CMT2 pedigrees associated to LRSAM1 mutations

From: LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond

 

Guernsey et al. [6]

Weterman et al. [11]

Aerts et al. [23]

Nicolau et al. [9]

Engeholm et al. [12]

Peeters et al. [10]

Berciano et al. [21]

Hu et al. [8]

Peddareddigari et al. [51]

Hakonen et al. [7]

Zhao et al. [17]

Peretti et al. [18]

Mortreux et al. [52]

No. of pedigrees

1

1

1

1

1

1

1

1

1

8

1

No. examined patients

6

11

10

3

13

5

3

2

4

72

1

No. asymptomatic patients

1

2

6

None

6

None

2

None

None

1

None

Transmission

AR

AD

AD

AD

AD

AD

AD

AD

AD

AD

AD

Age onset, proband/secondary cases

20/adulthood

32/20–40

34/15–50

20/20–40

17/10–40

30/20–43

10 (proband)

50 (proband)

32 (42–49)

39 ± 12 (15–70)

56

Presenting symptom

Distal leg weakness

Distal leg weakness

Distal leg weakness

Foot hypoesthesia

Foot deformity

Gait clumsiness

Gait clumsiness

?

Distal leg weakness

Gait instability

Food drop

dLL weakness or amyotrophy

 + 

 + 

 + 

 + 

 + 

 + 

 + 

?

 + 

 + 

 + 

dLL hypoesthesia

 + 

 + 

 + 

 + 

 + 

 + 

 + 

?

 + 

 + 

 + 

LL reflexes

Absent

Absent or reduced

Absent (Achilles)

Absent

Preserved or absent

Absent (Achilles)

Present or reduced

?

Absent or reduced

Usually absent

Absent

Pes cavus

 + 

 + 

 + 

No

 + 

No

No

?

 + 

Usually absent

 + 

dUL weakness or amyotrophy

 + 

 + in 3 cases

No

No

No

No

 + 

?

 + 

No

No

dUL hypoesthesia

 + 

 + in 7 cases

No

 + 

Usually mild deficit

No

 + 

?

 + 

Usually present

No

UL reflexes

Absent

Absent or reduced in 7 cases

Preserved

Preserved

Usually preserved

Preserved

Preserved

?

Reduced

Preserved

Preserved

Pain

Episodic cramping

No

Episodic cramps

Cramps

No

No

No

?

Tingling feet

Cramps, neuropathic pain

No

Autonomic dysfunction

Presenta

No

Presenta

No

No

No

No

?

No

Presenta

No

Other manifestations

Sensory ataxia; tremor

Parkinson in 3 cases

Presentc

Tabetic gait

None

Pelvic swing

None

?

None

Tremor; restless leg syndrome

No

Disease severity

Variable to wheelchair bound

Mild

Asymtomatic to

Mild

Mild

Mild to moderate

Moderate

?

Mild to moderate

Mild to wheelchair bound

Moderate

Serum CK level

↑ 1921

Not done

Not done

↑480

Not done

Not done

Not done

?

Not done

↑ 3000

Not done

Nerve conduction pattern

Axonal

Axonal

Axonal

Axonal (attenuated SNAP)

Axonal

Axonal

Axonal

?

Axonal

Axonal

Not done

Electromyographic pattern

Neurogenicb

Not done

Not done

Neurogenic

Neurogenic

Neurogenic

Neurogenic

?

Not done

Neurogenic

Not done

Nerve biopsy pattern

Not done

Axonal

Not done

Axonal

Axonald

Not done

Not done

?

Not done

Axonal

Not done

  1. AD, autosomal dominant; AR, autosomal recessive; CK, creatin kinase; dLL, distal lower limb; dUL, distal upper limb
  2. (a) Erectile dysfunction and/or urinary urgency. (b) Including paraspinal muscles; fasciculations and fibrillations. (c) Mutilating arthropathy; fasciculations. (d) See text for autopsy study in one case, sural nerve biopsy in two cases, and proximal-to-distal histological study of sciatic nerve in an amputated leg; in short, the disease is a model of motor and sensory neuronopathy with length-dependent sensorimotor axonal degeneration. ( +) Present sign