J Neurol Res

Journal of Neurology Research, ISSN 1923-2845 print, 1923-2853 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Neurol Res and Elmer Press Inc

Journal website http://www.neurores.org

Original Article

Volume 2, Number 6, December 2012, pages 235-243

Analysis of Association of Deletion in the Repeat Region of the Periaxin Gene With Late Onset Motor Neuropathy

Figure 1. Pedigree of family with adult onset CMT disease. Squares indicate males, circle females, dark fill indicates affected individuals with deletion mutation, black dot indicates individuals with the deletion but not confirmed clinically.

Figure 2. Gel showing the results of (A) the results of PCR for the 15 bp deletion mutation in periaxin gene in the family of the index patient (B) the results of the sequencing of the PCR products.

Figure 3. Showing the repeat region comprising of amino acids 430 to 730, deletion in this region leads to disruption of the core penta and tri repeats and also affects the higher order repeats in the region. The amino acids deleted are indicated in bold Italics. The 15 bp deletion in Case 1, index patient III-5 results in deletion of five amino acids causing disruption of two adjacent penta-repeats. The 78 bp deletion in Case 2 results in deletion of twenty-six amino acids leading to disruption of two penta-repeats and deletion of three pentamers and two spacer tri-peptide repeats.

**Table 1.** Nerve Conduction Studies in Case 1
Nerve	Distal latencies, ms (nl)	Response amplitude, mv	Conduction velocity, m/s	F-wave latency, ms	Comments
NR: no response.
Motor
Median	(< 4.4)	(> 4.0)	(> 50)	(< 30)
Right	4.2	8.1	51	29
Ulnar	(< 3.3)	(> 3.5)	(> 50)	(< 30)
Right	2.2	7.9	50	31
Peroneal	(< 6.2)	(> 2.6)	(> 40)		No response recording the extensor digitorum brevis, temporal dispersion recording the tibialisanterior muscle
Left	35.6	0.6	52
Right	8.9	0.2	34
Tibial	(< 6.0)	(> 4.0)	(> 40)
Left	5.7	4.2	43	54.3
Right	5.2	3.4	41	55.4
Sensory
Sural		(> 6.0)	(> 40)
Left		5	35
Right		5	37
Superficial Peroneal		(> 6.0)	(> 40)
Right		7	35
Median		(> 20)	(> 50)		Recording digit 2
Right		10	44
Ulnar		(> 17)	(< 50)
Right		4	43
Radial		(> 15)	(> 50)
Right		13	56

Table 1. Nerve Conduction Studies in Case 1

Nerve

Distal latencies, ms (nl)

Response amplitude, mv

Conduction velocity, m/s

F-wave latency, ms

Comments

NR: no response.

Motor

Median

(< 4.4)

(> 4.0)

(> 50)

(< 30)

Right

4.2

8.1

Ulnar

(< 3.3)

(> 3.5)

(> 50)

(< 30)

Right

2.2

7.9

Peroneal

(< 6.2)

(> 2.6)

(> 40)

No response recording the extensor digitorum brevis, temporal dispersion recording the tibialisanterior muscle

Left

35.6

0.6

Right

8.9

0.2

Tibial

(< 6.0)

(> 4.0)

(> 40)

Left

5.7

4.2

54.3

Right

5.2

3.4

55.4

Sensory

Sural

(> 6.0)

(> 40)

Left

Right

Superficial Peroneal

(> 6.0)

(> 40)

Right

Median

(> 20)

(> 50)

Recording digit 2

Right

Ulnar

(> 17)

(< 50)

Right

Radial

(> 15)

(> 50)

Right

**Table 2.** Case 2, Patient 111-5-Nerve Conduction Study
Nerve	Distal latencies, ms (nl)	Response amplitude, mv	Conduction velocity, m/s	F-wave latency, ms	Comments
NR: no response.
Motor
Median	(< 4.4)	(> 4.0)	(> 50)	(< 30)	Temporal dispersion in the proximal nerve segment bilaterally
Left	4.9	4.4	44	34
Right	5.2	3.5	47	31
Ulnar	(< 3.3)	(> 3.5)	(> 50)	(< 30)	Prolonged F-wave latencies
Left	6.6	1.7	39	42
Right	6.4	1.2	42	36
Peroneal	(< 6.2)	(> 2.6)	(> 40)	NR	No response recording the extensor digitorum brevis, minimal response recording the tibialis anterior muscle
Left	NR	NR	NR
Right	NR	NR	NR
Tibial	(< 6.0)	(> 4.0)	(> 40)	NR
Left	NR	NR	NR
Right	NR	NR	NR
Sensory
Sural		(> 6.0)	(> 40)
Left		1.0	35
Right		0.8	34
Superficial Peroneal		(> 6.0)	(> 40)
Right		4.7	25
Median		(> 20)	(> 50)
Left		16.7	40
Right		18	45
Ulnar		(> 17)	(> 50)
Left		5.0	36
Right		1.6	46
Radial		(> 15)	(> 50)
Left		18	43
Right		11	40

Table 2. Case 2, Patient 111-5-Nerve Conduction Study

Nerve

Distal latencies, ms (nl)

Response amplitude, mv

Conduction velocity, m/s

F-wave latency, ms

Comments

NR: no response.

Motor

Median

(< 4.4)

(> 4.0)

(> 50)

(< 30)

Temporal dispersion in the proximal nerve segment bilaterally

Left

4.9

4.4

Right

5.2

3.5

Ulnar

(< 3.3)

(> 3.5)

(> 50)

(< 30)

Prolonged F-wave latencies

Left

6.6

1.7

Right

6.4

1.2

Peroneal

(< 6.2)

(> 2.6)

(> 40)

No response recording the extensor digitorum brevis, minimal response recording the tibialis anterior muscle

Left

Right

Tibial

(< 6.0)

(> 4.0)

(> 40)

Left

Right

Sensory

Sural

(> 6.0)

(> 40)

Left

1.0

Right

0.8

Superficial Peroneal

(> 6.0)

(> 40)

Right

4.7

Median

(> 20)

(> 50)

Left

16.7

Right

Ulnar

(> 17)

(> 50)

Left

5.0

Right

1.6

Radial

(> 15)

(> 50)

Left

Right